메뉴 건너뛰기




Volumn 47, Issue 10, 2008, Pages 1041-1050

Hereditary hypo/de-pigmented dermatoses: An overview

Author keywords

[No Author keywords available]

Indexed keywords

ALBINISM; ALBINOIDISM; AMELANOTIC NEVUS; ATHETOSIS; CHEDIAK HIGASHI SYNDROME; CLINICAL FEATURE; DEPIGMENTATION; GENE MUTATION; GENETIC DISORDER; GRISCELLI PRUNIERAS SYNDROME; HALO NEVUS; HAPPY PUPPET SYNDROME; HISTOPATHOLOGY; HUMAN; HYPOPIGMENTATION; INCONTINENTIA PIGMENTI; LOWE SYNDROME; MENTAL DEFICIENCY; MORBIDITY; MUTATIONAL ANALYSIS; NONHUMAN; OCULAR ALBINISM; PHENYLKETONURIA; PIEBALDISM; PRADER WILLI SYNDROME; RESTLESSNESS; REVIEW; SEIZURE; SKIN DISEASE; TIETZE SYNDROME; TUBEROUS SCLEROSIS; VITILIGO; WAARDENBURG SYNDROME;

EID: 54749132351     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2008.03105.x     Document Type: Review
Times cited : (10)

References (119)
  • 2
    • 0018528251 scopus 로고
    • Dipigmentation of the general and oral tissues and their genetic foundations
    • Witkop CJ. Dipigmentation of the general and oral tissues and their genetic foundations. Ala J Med Sci 1979; 16: 330-343.
    • (1979) Ala J Med Sci , vol.16 , pp. 330-343
    • Witkop, C.J.1
  • 3
    • 0036783758 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: Radiography and CT of the chest compared with pulmonary function tests and genetic studies
    • Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl WA. Hermansky-Pudlak syndrome: Radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol 2002; 179: 887-892.
    • (2002) AJR Am J Roentgenol , vol.179 , pp. 887-892
    • Avila, N.A.1    Brantly, M.2    Premkumar, A.3    Huizing, M.4    Dwyer, A.5    Gahl, W.A.6
  • 4
    • 0034928726 scopus 로고    scopus 로고
    • Mutation of a new gene caused a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
    • Anikster Y, Huizing M, White J, et al. Mutation of a new gene caused a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001; 28: 376-380.
    • (2001) Nat Genet , vol.28 , pp. 376-380
    • Anikster, Y.1    Huizing, M.2    White, J.3
  • 7
    • 0027417524 scopus 로고
    • Tyrosinase gene mutations causing oculocutaneous albinisms
    • Tomita Y. Tyrosinase gene mutations causing oculocutaneous albinisms. J Invest Dermatol 1993; 100: 1865-1905.
    • (1993) J Invest Dermatol , vol.100 , pp. 1865-1905
    • Tomita, Y.1
  • 9
    • 19244382144 scopus 로고    scopus 로고
    • Genetic defects and clinical characteristic of patients with a form of oculocutaneous albimism (Hermansky-Pudlak syndrome)
    • Gahl WA, Brantly M, Kaiser-Kupfer MI, et al. Genetic defects and clinical characteristic of patients with a form of oculocutaneous albimism (Hermansky-Pudlak syndrome). N Engl J Med 1998; 338: 1258-1264.
    • (1998) N Engl J Med , vol.338 , pp. 1258-1264
    • Gahl, W.A.1    Brantly, M.2    Kaiser-Kupfer, M.I.3
  • 10
    • 0024269705 scopus 로고
    • Hermansky-Pudlak syndrome - An immunologic assessment of 15 cases
    • Shanahan F, Randolph L, King R, et al. Hermansky-Pudlak syndrome - an immunologic assessment of 15 cases. Am J Med 1988; 85: 823-828.
    • (1988) Am J Med , vol.85 , pp. 823-828
    • Shanahan, F.1    Randolph, L.2    King, R.3
  • 11
    • 0025373487 scopus 로고
    • Hermansky-Pudlak syndrome - Case report and clinicopathological review
    • Schachne JP, Glaser N, Lee SH, et al. Hermansky-Pudlak syndrome - case report and clinicopathological review. J Am Acad Dermatol 1990; 22: 926-932.
    • (1990) J Am Acad Dermatol , vol.22 , pp. 926-932
    • Schachne, J.P.1    Glaser, N.2    Lee, S.H.3
  • 12
    • 0017296762 scopus 로고
    • Hair bulb tyrosinase activity in oculocutaneous albinism
    • King RA, Witkop CJ Jr. Hair bulb tyrosinase activity in oculocutaneous albinism. Nature 1976; 263: 69-71.
    • (1976) Nature , vol.263 , pp. 69-71
    • King, R.A.1    Witkop Jr., C.J.2
  • 13
    • 0016500926 scopus 로고
    • Albinism in Nigeria. A clinical and social study
    • Okoro AN. Albinism in Nigeria. A clinical and social study. Br J Dermatol 1975; 92: 485-492.
    • (1975) Br J Dermatol , vol.92 , pp. 485-492
    • Okoro, A.N.1
  • 14
    • 0021090434 scopus 로고
    • Hereditary puzzle in albinisum. Heterogeneity or phenotypical variation?
    • Taylor WO. Hereditary puzzle in albinisum. Heterogeneity or phenotypical variation? Trans Opthalmol Soc UK 1983; 103: 318-330.
    • (1983) Trans Opthalmol Soc UK , vol.103 , pp. 318-330
    • Taylor, W.O.1
  • 15
    • 0021340887 scopus 로고
    • Albinism in South African Negro III. Genetic counselling issue
    • Kromberg JG, Jenkins T. Albinism in South African Negro III. Genetic counselling issue. J Blosoc Sci 1984; 16: 99-108.
    • (1984) J Blosoc Sci , vol.16 , pp. 99-108
    • Kromberg, J.G.1    Jenkins, T.2
  • 16
    • 0034489068 scopus 로고    scopus 로고
    • A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child. A clinical and genetic study
    • Dube P, Der Kaloustian VM, Demczuk S, et al. A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child. A clinical and genetic study. Ophthalmic Genet 2000; 21: 211-216.
    • (2000) Ophthalmic Genet , vol.21 , pp. 211-216
    • Dube, P.1    Der Kaloustian, V.M.2    Demczuk, S.3
  • 17
    • 12144290965 scopus 로고    scopus 로고
    • Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
    • Inagaki K, Suzuki T, Shimizu H, et al. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am J Hum Genet 2004; 74: 466-471.
    • (2004) Am J Hum Genet , vol.74 , pp. 466-471
    • Inagaki, K.1    Suzuki, T.2    Shimizu, H.3
  • 18
    • 0026687861 scopus 로고
    • The tyrosinase positive oculocutaneous albinism locus maps to chromosome 15Q112-Q12
    • Ramsay M, Colman MA, Stevens G, et al. The tyrosinase positive oculocutaneous albinism locus maps to chromosome 15Q112-Q12. Am J Hum Genet 1992; 51: 879-884.
    • (1992) Am J Hum Genet , vol.51 , pp. 879-884
    • Ramsay, M.1    Colman, M.A.2    Stevens, G.3
  • 19
    • 0019252819 scopus 로고
    • Yellow mutant albinism-cytochemical, ultra-structural and genetic characterization suggesting multiple allelism
    • Hu F, Hanifin JM, Prescott GH, et al. Yellow mutant albinism-cytochemical, ultra-structural and genetic characterization suggesting multiple allelism. Am J Hum Genet 1980; 32: 387-395.
    • (1980) Am J Hum Genet , vol.32 , pp. 387-395
    • Hu, F.1    Hanifin, J.M.2    Prescott, G.H.3
  • 20
    • 0025375331 scopus 로고
    • Genetic mapping of X-linked albinism-deafness syndrome. (ADFN) to Xq26.3-q27.I
    • Shiloh Y, Litvak G, Ziv Y, et al. Genetic mapping of X-linked albinism-deafness syndrome. (ADFN) to Xq26.3-q27.I. Am J Hum Genet 1990; 47: 20-27.
    • (1990) Am J Hum Genet , vol.47 , pp. 20-27
    • Shiloh, Y.1    Litvak, G.2    Ziv, Y.3
  • 21
    • 0027284779 scopus 로고
    • Genetic mapping of X-linked ocular albinism-linkage analysis in a large Newfoundland kindred
    • Charles SJ, Green JS, Moore AT, et al. Genetic mapping of X-linked ocular albinism-linkage analysis in a large Newfoundland kindred. Genomic 1993; 16: 259-261.
    • (1993) Genomic , vol.16 , pp. 259-261
    • Charles, S.J.1    Green, J.S.2    Moore, A.T.3
  • 22
    • 0030944911 scopus 로고    scopus 로고
    • Utility of linked markers in genetic counseling: Estimation of carrier risks in X-linked ocular albinism
    • Rebbeck TR, Jordan HA, Schnur RE, et al. Utility of linked markers in genetic counseling: Estimation of carrier risks in X-linked ocular albinism. Am J Med Genet 1997; 70: 58-66.
    • (1997) Am J Med Genet , vol.70 , pp. 58-66
    • Rebbeck, T.R.1    Jordan, H.A.2    Schnur, R.E.3
  • 23
    • 0031064340 scopus 로고    scopus 로고
    • Molecular basis of congenital hypopigmentary disorders in humans: A review
    • Boissy RE, Nordlund JJ. Molecular basis of congenital hypopigmentary disorders in humans: A review. Pigment Cell Res 1997; 10: 12-24.
    • (1997) Pigment Cell Res , vol.10 , pp. 12-24
    • Boissy, R.E.1    Nordlund, J.J.2
  • 24
    • 0032913013 scopus 로고    scopus 로고
    • Molecular basis of albinism: Mutations and polymorphism of pigmentation gene associated with albinism
    • Oetting WS, King RA. Molecular basis of albinism: Mutations and polymorphism of pigmentation gene associated with albinism. Hum Mutal 1999; 13: 99-115.
    • (1999) Hum Mutal , vol.13 , pp. 99-115
    • Oetting, W.S.1    King, R.A.2
  • 25
    • 0034703862 scopus 로고    scopus 로고
    • OA1 knock-out-new insights on the pathogenesis of ocular albinism type I
    • Incerti B, Cortese K, Pizzigoni A, et al. OA1 knock-out-new insights on the pathogenesis of ocular albinism type I. Hum Mol Genet 2000; 9: 2781-2788.
    • (2000) Hum Mol Genet , vol.9 , pp. 2781-2788
    • Incerti, B.1    Cortese, K.2    Pizzigoni, A.3
  • 26
    • 0034753365 scopus 로고    scopus 로고
    • Mutations in the human orthologue of the mouse under-white gene underlie a new form of oculocutaneous albinism OCA4
    • Newton JM, Cohen-Barak O, Hagiwara N, et al. Mutations in the human orthologue of the mouse under-white gene underlie a new form of oculocutaneous albinism OCA4. Am J Hum Genet 2001; 69: 981-988.
    • (2001) Am J Hum Genet , vol.69 , pp. 981-988
    • Newton, J.M.1    Cohen-Barak, O.2    Hagiwara, N.3
  • 27
    • 0036016306 scopus 로고    scopus 로고
    • The etiology of oculocutaneous albinism (OCA) type II. The pink protein modulates the processing and transport of tyrosinase
    • Toyofuku K, Valencia JC, Kushimoto T, et al. The etiology of oculocutaneous albinism (OCA) type II. The pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res 2002; 15: 217-224.
    • (2002) Pigment Cell Res , vol.15 , pp. 217-224
    • Toyofuku, K.1    Valencia, J.C.2    Kushimoto, T.3
  • 29
    • 54749124943 scopus 로고
    • Two cases of incomplete universal albinism (albinoidism) of a peculiar biotype in a Valais family
    • Busti Rosner L. Two cases of incomplete universal albinism (albinoidism) of a peculiar biotype in a Valais family. J Genet Hum 1956; 5: 197-215.
    • (1956) J Genet Hum , vol.5 , pp. 197-215
    • Busti Rosner, L.1
  • 30
    • 0344573032 scopus 로고    scopus 로고
    • Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak Syndrome)
    • [correction of (Hennansky-Pudlak)]
    • Fulton AB. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak Syndrome) [correction of (Hennansky-Pudlak)]. Arch Opthol 1999; 117: 251-252.
    • (1999) Arch Opthol , vol.117 , pp. 251-252
    • Fulton, A.B.1
  • 31
    • 15444350662 scopus 로고    scopus 로고
    • Rim-2 (recombination induced mutation-2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): Genetic and physical mapping
    • Sagai T, Koide T, Endo M, et al. Rim-2 (recombination induced mutation-2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): Genetic and physical mapping. Mamm Genome 1998; 9: 2-7.
    • (1998) Mamm Genome , vol.9 , pp. 2-7
    • Sagai, T.1    Koide, T.2    Endo, M.3
  • 32
    • 0023485139 scopus 로고
    • Reliability of absent platelet dense bodies as a diagnostic criteria for Hermansky-Pudlak Syndrome
    • Witkop CJ, Krumwiede M, Sedano H, et al. Reliability of absent platelet dense bodies as a diagnostic criteria for Hermansky-Pudlak Syndrome. Am J Haematol 1987; 26: 305-311.
    • (1987) Am J Haematol , vol.26 , pp. 305-311
    • Witkop, C.J.1    Krumwiede, M.2    Sedano, H.3
  • 33
    • 0043208690 scopus 로고    scopus 로고
    • BLOC-3 a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
    • Martina JA, Moriyama K, Bonifacino JS. BLOC-3 a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 2003; 278: 29376-29384.
    • (2003) J Biol Chem , vol.278 , pp. 29376-29384
    • Martina, J.A.1    Moriyama, K.2    Bonifacino, J.S.3
  • 34
    • 0033007616 scopus 로고    scopus 로고
    • Altered trafficking of lysosomal protein in Hermansky-Pudlak Syndrome due to mutations in the beta 3 A sub unit of the AP-3 adapter
    • Dell'Angelica EC, Sholeler-Suk V, Aguilar RC, et al. Altered trafficking of lysosomal protein in Hermansky-Pudlak Syndrome due to mutations in the beta 3 A sub unit of the AP-3 adapter. Mol Cell 1999; 3: 11-21.
    • (1999) Mol Cell , vol.3 , pp. 11-21
    • Dell'Angelica, E.C.1    Sholeler-Suk, V.2    Aguilar, R.C.3
  • 35
    • 0036285648 scopus 로고    scopus 로고
    • Failure of trafficking and antigen presentation by CD-1 in AP-3 deficient cells
    • Sugita M, Cao X, Watts GF, et al. Failure of trafficking and antigen presentation by CD-1 in AP-3 deficient cells. Immunity 2002; 16: 697-706.
    • (2002) Immunity , vol.16 , pp. 697-706
    • Sugita, M.1    Cao, X.2    Watts, G.F.3
  • 36
    • 0034760556 scopus 로고    scopus 로고
    • The gene mutated in Cocoa mice, carrying a defect in organelle bio-genesis is a homologue of the human Hermansky-Pudlak Syndrome-3 gene
    • Suzuki T, Li W, Zhang Q, et al. The gene mutated in Cocoa mice, carrying a defect in organelle bio-genesis is a homologue of the human Hermansky-Pudlak Syndrome-3 gene. Genomics 2001; 78: 30-37.
    • (2001) Genomics , vol.78 , pp. 30-37
    • Suzuki, T.1    Li, W.2    Zhang, Q.3
  • 37
    • 0037312933 scopus 로고    scopus 로고
    • Ru-2 and Ru encode mouse orthologs of the gene mutated in human Hermansky-Pudlak Syndrome types 5 and 6
    • Zhang Q, Zhao B, Li W, et al. Ru-2 and Ru encode mouse orthologs of the gene mutated in human Hermansky-Pudlak Syndrome types 5 and 6. Nato Genet 2003; 33: 145-153.
    • (2003) Nato Genet , vol.33 , pp. 145-153
    • Zhang, Q.1    Zhao, B.2    Li, W.3
  • 38
    • 0041854263 scopus 로고    scopus 로고
    • Hermansky-Pudlak Syndrome type 7 results from the mutant dysbinding member of the biogenesis of lysosome-related organdle complex 1 (BLOC-1)
    • Li W, Zhang Q, Oiso N, et al. Hermansky-Pudlak Syndrome type 7 results from the mutant dysbinding member of the biogenesis of lysosome-related organdle complex 1 (BLOC-1). Nat Genet 2003; 35: 84-89.
    • (2003) Nat Genet , vol.35 , pp. 84-89
    • Li, W.1    Zhang, Q.2    Oiso, N.3
  • 39
    • 0036253771 scopus 로고    scopus 로고
    • The Chediak-Hermansky protein interacts with SNARE complex and signal transduction proteins
    • Tchernev VT, Mansfield TA, Giot L, et al. The Chediak-Hermansky protein interacts with SNARE complex and signal transduction proteins. Mol Med 2002; 8: 56-64.
    • (2002) Mol Med , vol.8 , pp. 56-64
    • Tchernev, V.T.1    Mansfield, T.A.2    Giot, L.3
  • 40
    • 0032100704 scopus 로고    scopus 로고
    • Deficient peptide loading and MHC class II endosomal sorting in human state - The Chediak Higashi syndrome
    • Faigle W, Raposo G, Tenza D, et al. Deficient peptide loading and MHC class II endosomal sorting in human state - The Chediak Higashi syndrome. J Cell Biol 1998; 141: 1121-1134.
    • (1998) J Cell Biol , vol.141 , pp. 1121-1134
    • Faigle, W.1    Raposo, G.2    Tenza, D.3
  • 41
    • 0014154576 scopus 로고
    • Giant granules in leukocytes of the beige mouse
    • Lutzner MA, Lowrie CT, Jorden HW. Giant granules in leukocytes of the beige mouse. J Hered 1967; 58: 299-300.
    • (1967) J Hered , vol.58 , pp. 299-300
    • Lutzner, M.A.1    Lowrie, C.T.2    Jorden, H.W.3
  • 42
    • 0014235777 scopus 로고
    • A human pigmentary dilution based on a heritable subcellular structured defect
    • Windhorst DB, Zelickson AS, Good RA. A human pigmentary dilution based on a heritable subcellular structured defect. J Invest Dermatol 1968; 50: 9-18.
    • (1968) J Invest Dermatol , vol.50 , pp. 9-18
    • Windhorst, D.B.1    Zelickson, A.S.2    Good, R.A.3
  • 43
    • 0014136993 scopus 로고
    • Comparative studies of the Chediak Higashi Syndrome
    • Padgett GA, Reiquam CW, Gorham JR, et al. Comparative studies of the Chediak Higashi Syndrome. Am J Pathol 1967; 51: 553-571.
    • (1967) Am J Pathol , vol.51 , pp. 553-571
    • Padgett, G.A.1    Reiquam, C.W.2    Gorham, J.R.3
  • 44
    • 13844272704 scopus 로고    scopus 로고
    • Three cases of Waardenburg Syndrome type ×2 in a Korean family
    • Choi JH, Hoon SK, Lee KH, et al. Three cases of Waardenburg Syndrome type ×2 in a Korean family. Korean J Opthalmol 2004; 18: 185-189.
    • (2004) Korean J Opthalmol , vol.18 , pp. 185-189
    • Choi, J.H.1    Hoon, S.K.2    Lee, K.H.3
  • 45
    • 3042570658 scopus 로고    scopus 로고
    • A family with Waardenburg syndrome
    • Denli YG, Yucel A, Gunasti S, et al. A family with Waardenburg syndrome. J Dermatol 2004; 31: 434-436.
    • (2004) J Dermatol , vol.31 , pp. 434-436
    • Denli, Y.G.1    Yucel, A.2    Gunasti, S.3
  • 46
    • 0142024767 scopus 로고    scopus 로고
    • World-wide distribution of Waardenburg syndrome
    • Nayak CS, Isaacson G. World-wide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol 2003; 112: 7-20.
    • (2003) Ann Otol Rhinol Laryngol , vol.112 , pp. 7-20
    • Nayak, C.S.1    Isaacson, G.2
  • 47
    • 76949125703 scopus 로고
    • A new syndrome combining developmental anomalies of the eyelid, eyebrows and nose root with pigmentary defects of the iris, head hair with congenital deafness
    • Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelid, eyebrows and nose root with pigmentary defects of the iris, head hair with congenital deafness. Am J Human Genet 1951; 3: 195-253.
    • (1951) Am J Human Genet , vol.3 , pp. 195-253
    • Waardenburg, P.J.1
  • 48
    • 70449325548 scopus 로고
    • Deafness as a part of an hereditary syndrome
    • Fisch T. Deafness as a part of an hereditary syndrome. J Laryngol Otol 1959; 73: 355-382.
    • (1959) J Laryngol Otol , vol.73 , pp. 355-382
    • Fisch, T.1
  • 49
    • 58149451271 scopus 로고
    • Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects
    • Di George AM, Olmsted RW, Harley RD. Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects. Journal of Pediatrics 1960; 57: 649-669.
    • (1960) Journal of Pediatrics , vol.57 , pp. 649-669
    • Di George, A.M.1    Olmsted, R.W.2    Harley, R.D.3
  • 50
    • 0001252028 scopus 로고
    • Waardenburg's syndrome and heterochromia iridum in a school population
    • Partington MW. Waardenburg's syndrome and heterochromia iridum in a school population. Cam Med Assoc 1964; 90: 1008-1017.
    • (1964) Cam Med Assoc , vol.90 , pp. 1008-1017
    • Partington, M.W.1
  • 51
    • 0023893167 scopus 로고
    • Piebaldism, Waardenburg's syndrome and related disorders "Neural crest depigmentation syndromes"
    • Ortonne JP. Piebaldism, Waardenburg's syndrome and related disorders "Neural crest depigmentation syndromes". Dermatol Clin 1988; 6: 205-216.
    • (1988) Dermatol Clin , vol.6 , pp. 205-216
    • Ortonne, J.P.1
  • 52
    • 1042291831 scopus 로고    scopus 로고
    • Intestinal aganglinosis associated with the Waardenburg's syndrome: Report of two cases and review of the literature
    • Toki F, Suzuki N, Inoue K, et al. Intestinal aganglinosis associated with the Waardenburg's syndrome: Report of two cases and review of the literature. Pediatr Surg Int 2003; 19: 725-728.
    • (2003) Pediatr Surg Int , vol.19 , pp. 725-728
    • Toki, F.1    Suzuki, N.2    Inoue, K.3
  • 53
    • 0014149006 scopus 로고
    • Waardenburg's syndrome. Report of a family
    • Cant JS, Martin AJ. Waardenburg's syndrome. Report of a family. Br J Opthlomol 1967; 51: 755-759.
    • (1967) Br J Opthlomol , vol.51 , pp. 755-759
    • Cant, J.S.1    Martin, A.J.2
  • 54
    • 0242575730 scopus 로고    scopus 로고
    • Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome
    • Madden C, Halsted MJ, Hopken RJ, et al. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope 2003; 113: 2035-2041.
    • (2003) Laryngoscope , vol.113 , pp. 2035-2041
    • Madden, C.1    Halsted, M.J.2    Hopken, R.J.3
  • 55
    • 54749142732 scopus 로고
    • Hereditary deafness in Waardenburg-Klein syndrome
    • Nov
    • Partsch CJ. [Hereditary deafness in Waardenburg-Klein syndrome]. Z Laryngol Rhinol Otol 1962 Nov; 41: 752-762.
    • (1962) Z Laryngol Rhinol Otol , vol.41 , pp. 752-762
    • Partsch, C.J.1
  • 56
    • 0014056474 scopus 로고
    • Pigmentary disorders in association with congenital deafness
    • Reed WB, Stone VM, Boder E, et al. Pigmentary disorders in association with congenital deafness. Arch Dermatol 1967; 95: 176-186.
    • (1967) Arch Dermatol , vol.95 , pp. 176-186
    • Reed, W.B.1    Stone, V.M.2    Boder, E.3
  • 57
    • 0023685026 scopus 로고
    • Piebaldism - Waardenburg syndrome: Histopathologic evidence for a neural crest syndrome
    • Kaplan P, de Chaderevian JP. Piebaldism - Waardenburg syndrome: Histopathologic evidence for a neural crest syndrome. Am J Med Genet 1988; 31: 679-688.
    • (1988) Am J Med Genet , vol.31 , pp. 679-688
    • Kaplan, P.1    de Chaderevian, J.P.2
  • 58
    • 0028908831 scopus 로고
    • Waardenburg syndrome type II-phenotype findings and diagnostic criteria
    • Liu XZ, Newton VE, Read AP. Waardenburg syndrome type II-phenotype findings and diagnostic criteria. Am J Med Genet 1995; 55: 95-100.
    • (1995) Am J Med Genet , vol.55 , pp. 95-100
    • Liu, X.Z.1    Newton, V.E.2    Read, A.P.3
  • 59
    • 0017366806 scopus 로고
    • Ultrastructural study of leukodermic skin in Waardenburg-Klein syndrome
    • Perrot H, Ortonne JP, Thivolet J. Ultrastructural study of leukodermic skin in Waardenburg-Klein syndrome. Acta Derm Verereol (Stock) 1977; 57: 195-200.
    • (1977) Acta Derm Verereol (Stock) , vol.57 , pp. 195-200
    • Perrot, H.1    Ortonne, J.P.2    Thivolet, J.3
  • 60
    • 0019406679 scopus 로고
    • White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg's syndrome
    • Shah KN, Dalal SJ, Desai MP, et al. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg's syndrome. J Pediatr 1981; 99: 432-435.
    • (1981) J Pediatr , vol.99 , pp. 432-435
    • Shah, K.N.1    Dalal, S.J.2    Desai, M.P.3
  • 62
    • 0030973113 scopus 로고    scopus 로고
    • Piebaldism, Waardernburgs syndrome and related disorders of melanocyte development
    • Spritz RA. Piebaldism, Waardernburgs syndrome and related disorders of melanocyte development. Semin Cutan Med Surg 1997; 16: 15-23.
    • (1997) Semin Cutan Med Surg , vol.16 , pp. 15-23
    • Spritz, R.A.1
  • 63
    • 0014014253 scopus 로고
    • Partial albinism
    • Comings DE, Odland GF. Partial albinism. JAMA 1966; 195: 519-523.
    • (1966) JAMA , vol.195 , pp. 519-523
    • Comings, D.E.1    Odland, G.F.2
  • 64
    • 0002374762 scopus 로고
    • Familial white skin spotting (piebaldism) ("partial albinism") with white forelock
    • Cooke JV. Familial white skin spotting (piebaldism) ("partial albinism") with white forelock. J Pediatr 1952; 41: 1-12.
    • (1952) J Pediatr , vol.41 , pp. 1-12
    • Cooke, J.V.1
  • 65
    • 0016641271 scopus 로고
    • Congenital circumscribed hypomelanosis: A characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism
    • Jimbow K, Fitzpatrick TB, Szabo G, et al. Congenital circumscribed hypomelanosis: A characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism. J Invest Dermatol 1975; 64: 50-56.
    • (1975) J Invest Dermatol , vol.64 , pp. 50-56
    • Jimbow, K.1    Fitzpatrick, T.B.2    Szabo, G.3
  • 67
    • 0023906359 scopus 로고
    • Tyrosinase positive melanocyte distribution and induction of pigmentation in human piebald skin
    • Hayashibe K, Mishima Y. Tyrosinase positive melanocyte distribution and induction of pigmentation in human piebald skin. Arch Dermatol 1988; 124: 381-386.
    • (1988) Arch Dermatol , vol.124 , pp. 381-386
    • Hayashibe, K.1    Mishima, Y.2
  • 68
    • 0029069669 scopus 로고
    • Human piebaldism - Relationship between phenotype and site of kit gene mutation
    • Ward KA, Moss C, Sanders DS. Human piebaldism - relationship between phenotype and site of kit gene mutation. Br J Dermatol 1995; 132: 929-935.
    • (1995) Br J Dermatol , vol.132 , pp. 929-935
    • Ward, K.A.1    Moss, C.2    Sanders, D.S.3
  • 69
    • 0028857340 scopus 로고
    • Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism
    • Ezoe K, Holmes SA, Ho L, et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet 1995; 56: 58-66.
    • (1995) Am J Hum Genet , vol.56 , pp. 58-66
    • Ezoe, K.1    Holmes, S.A.2    Ho, L.3
  • 70
    • 0025940323 scopus 로고
    • Mutation of the KIT (mast/stem cell growth factor) proto-oncogene in human piebaldism
    • Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor) proto-oncogene in human piebaldism. Proc Natl Acad Sci USA 1991; 88: 8696-8699.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 8696-8699
    • Giebel, L.B.1    Spritz, R.A.2
  • 71
    • 0018086099 scopus 로고
    • A syndrome associating partial albinism and immunodeficiency
    • Griscelli C, Durandy A, Guy-grand D, et al. A syndrome associating partial albinism and immunodeficiency. Am J Med 1968; 65: 691-702.
    • (1968) Am J Med , vol.65 , pp. 691-702
    • Griscelli, C.1    Durandy, A.2    Guy-grand, D.3
  • 72
    • 0033588979 scopus 로고    scopus 로고
    • Regulation of melanosomes movement in the cell cycle by reversible association with Myosin V
    • Rogers SL, Karcher RL, Roland JT, et al. Regulation of melanosomes movement in the cell cycle by reversible association with Myosin V. J Cell Biol 1999; 146: 1265-1276.
    • (1999) J Cell Biol , vol.146 , pp. 1265-1276
    • Rogers, S.L.1    Karcher, R.L.2    Roland, J.T.3
  • 73
    • 18344388972 scopus 로고    scopus 로고
    • 7-a: A key to melanosome transport in human melanocytes
    • Bahadoran P, Aberdam E, Mantoux F, et al. Rab 2 7-a: A key to melanosome transport in human melanocytes. J Cell Biol 2001; 152: 843-850.
    • (2001) J Cell Biol , vol.152 , pp. 843-850
    • Bahadoran, P.1    Aberdam, E.2    Mantoux, F.3
  • 74
    • 0042388106 scopus 로고    scopus 로고
    • Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A-F exom deletion (GS1)
    • Menasche G, Ho CH, Sanal O, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A-F exom deletion (GS1). J Clin Invest 2003; 112: 450-456.
    • (2003) J Clin Invest , vol.112 , pp. 450-456
    • Menasche, G.1    Ho, C.H.2    Sanal, O.3
  • 75
    • 0024394687 scopus 로고
    • Hypomelanosis of Ito-spectrum of the disease
    • Glover MT, Brett EM, Atherton DJ. Hypomelanosis of Ito-spectrum of the disease. J Pediatr 1989; 115: 75-80.
    • (1989) J Pediatr , vol.115 , pp. 75-80
    • Glover, M.T.1    Brett, E.M.2    Atherton, D.J.3
  • 76
    • 0025021036 scopus 로고
    • Pigmentary dysplasias, hypomelanosis of Ito and genetic Mosaicism
    • Flannery DB. Pigmentary dysplasias, hypomelanosis of Ito and genetic Mosaicism. Am J Med Genet 1990; 35: 18-21.
    • (1990) Am J Med Genet , vol.35 , pp. 18-21
    • Flannery, D.B.1
  • 77
    • 0023719112 scopus 로고
    • Genetic counselling in hypomelanosis of Ito: Case report and Review
    • Moss C, Burn J. Genetic counselling in hypomelanosis of Ito: Case report and Review. Clin Genet 1988; 34: 109-115.
    • (1988) Clin Genet , vol.34 , pp. 109-115
    • Moss, C.1    Burn, J.2
  • 78
    • 0026528367 scopus 로고
    • Hypomelanosis of Ito - Diagnostic criteria and report of 41 cases
    • Ruiz-Maldonado R, Toussaint S, Tamayo L, et al. Hypomelanosis of Ito - diagnostic criteria and report of 41 cases. Pediatr Dermatol 1992; 9: 1-10.
    • (1992) Pediatr Dermatol , vol.9 , pp. 1-10
    • Ruiz-Maldonado, R.1    Toussaint, S.2    Tamayo, L.3
  • 80
    • 0029978890 scopus 로고    scopus 로고
    • Hypomelanosis of Ito and X-autosome translocations - A unifying hypothesis
    • Hatchwell E. Hypomelanosis of Ito and X-autosome translocations - a unifying hypothesis. J Med Genet 1996; 33: 177-183.
    • (1996) J Med Genet , vol.33 , pp. 177-183
    • Hatchwell, E.1
  • 81
    • 0036711108 scopus 로고    scopus 로고
    • Streptococcal exanthem in Blaschko-linear pattern - Clinical evidence for genetic mosaicism in hypomelanosis of Ito
    • Duran-McKinster C, Moises C, Rodriguez-Jurado R, et al. Streptococcal exanthem in Blaschko-linear pattern - clinical evidence for genetic mosaicism in hypomelanosis of Ito. Pediatr Dermatol 2002; 19: 423-425.
    • (2002) Pediatr Dermatol , vol.19 , pp. 423-425
    • Duran-McKinster, C.1    Moises, C.2    Rodriguez-Jurado, R.3
  • 82
    • 0344223304 scopus 로고    scopus 로고
    • Hypomelanosis of Ito - No entity but a cutaneous sign of Mosaicism
    • Kuster W, Konig A. Hypomelanosis of Ito - no entity but a cutaneous sign of Mosaicism. Am J Med Genet 1999; 85: 346-350.
    • (1999) Am J Med Genet , vol.85 , pp. 346-350
    • Kuster, W.1    Konig, A.2
  • 83
    • 0029854056 scopus 로고    scopus 로고
    • Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko
    • Nehal KS, PeBenito R, Orlow SJ. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol 1996; 132: 1167-1170.
    • (1996) Arch Dermatol , vol.132 , pp. 1167-1170
    • Nehal, K.S.1    PeBenito, R.2    Orlow, S.J.3
  • 85
    • 0034613974 scopus 로고    scopus 로고
    • Familial hypomelanosis of Ito - Implications for genetic counseling
    • Ruggieri M. Familial hypomelanosis of Ito - implications for genetic counseling. Am J Med Genet 2000; 95: 82-84.
    • (2000) Am J Med Genet , vol.95 , pp. 82-84
    • Ruggieri, M.1
  • 86
    • 0034103883 scopus 로고    scopus 로고
    • Sweat testing in hypomelanosis of Ito divergent results reflecting genetic heterogeneity
    • Steijlen PM, Vietor HE, Steensel MV, et al. Sweat testing in hypomelanosis of Ito divergent results reflecting genetic heterogeneity. Eur J Dermatol 2000; 10: 217-219.
    • (2000) Eur J Dermatol , vol.10 , pp. 217-219
    • Steijlen, P.M.1    Vietor, H.E.2    Steensel, M.V.3
  • 87
    • 0019931594 scopus 로고
    • Hypopigmented iris spot - An early sign of tuberous sclerosis
    • Gutman I, Dunn D, Behrens M, et al. Hypopigmented iris spot - an early sign of tuberous sclerosis. Ophthalmology 1982; 89: 1155-1159.
    • (1982) Ophthalmology , vol.89 , pp. 1155-1159
    • Gutman, I.1    Dunn, D.2    Behrens, M.3
  • 88
    • 0020056027 scopus 로고
    • Leaf-shaped lesions of the ocular fundus and white eyelashes in tuberous sclerosis
    • Awan KJ. Leaf-shaped lesions of the ocular fundus and white eyelashes in tuberous sclerosis. South Med J 1982; 75: 227-228.
    • (1982) South Med J , vol.75 , pp. 227-228
    • Awan, K.J.1
  • 89
    • 0025280016 scopus 로고
    • Genetic heterogeneity in tuberous sclerosis - Phenotypic correlation
    • Winship IM, Connor JM, Beighton PH. Genetic heterogeneity in tuberous sclerosis - phenotypic correlation. J Med Genet 1990; 27: 418-421.
    • (1990) J Med Genet , vol.27 , pp. 418-421
    • Winship, I.M.1    Connor, J.M.2    Beighton, P.H.3
  • 90
    • 0014866265 scopus 로고
    • White spots in tuberous sclerosis
    • Hurwitz S, Braverman IM. White spots in tuberous sclerosis. J Pediatr 1970; 77: 587-594.
    • (1970) J Pediatr , vol.77 , pp. 587-594
    • Hurwitz, S.1    Braverman, I.M.2
  • 91
    • 0014312357 scopus 로고
    • White leaf-shaped macules. Earliest visible sign of tuberous sclerosis
    • Fitzpatrick TB, Szabo G, Hori Y, et al. White leaf-shaped macules. Earliest visible sign of tuberous sclerosis. Arch Dermatol 1968; 98: 1-6.
    • (1968) Arch Dermatol , vol.98 , pp. 1-6
    • Fitzpatrick, T.B.1    Szabo, G.2    Hori, Y.3
  • 92
    • 0028040522 scopus 로고
    • The molecular genetics of tuberous sclerosis
    • Spec No
    • Sampson JR, Harris PC. The molecular genetics of tuberous sclerosis. Hum Mol Genet 1994; 3: Spec No: 1477-1480.
    • (1994) Hum Mol Genet , vol.3 , pp. 1477-1480
    • Sampson, J.R.1    Harris, P.C.2
  • 93
    • 0030879277 scopus 로고    scopus 로고
    • Identification of the tuberous sclerosis gene TSC-1 and chromosome 9q34
    • Van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC-1 and chromosome 9q34. Science 1997; 227: 805-808.
    • (1997) Science , vol.227 , pp. 805-808
    • Van Slegtenhorst, M.1    de Hoogt, R.2    Hermans, C.3
  • 94
    • 17844369428 scopus 로고    scopus 로고
    • The tuberous sclerosis -1 (TSC-1) gene product hamartin suppresses cell growth product tuberin by inhibiting its ubiquitinations
    • Benvenuto G, Li S, Brown SJ, et al. The tuberous sclerosis -1 (TSC-1) gene product hamartin suppresses cell growth product tuberin by inhibiting its ubiquitinations. Oncogene 2000; 19: 6306-6316.
    • (2000) Oncogene , vol.19 , pp. 6306-6316
    • Benvenuto, G.1    Li, S.2    Brown, S.J.3
  • 95
    • 0034023746 scopus 로고    scopus 로고
    • National Institute of Health consensus conference: Tuberous sclerosis complex
    • Hyman MH, Whittemore VH. National Institute of Health consensus conference: Tuberous sclerosis complex. Arch Neurol 2000; 57: 662-665.
    • (2000) Arch Neurol , vol.57 , pp. 662-665
    • Hyman, M.H.1    Whittemore, V.H.2
  • 96
    • 0029008279 scopus 로고
    • Neurocutaneous syndrome associated with pigmentary skin lesions
    • Zvulunov A, Esterly NB. Neurocutaneous syndrome associated with pigmentary skin lesions. J Am Acad Dermatol 1995; 32: 915-935.
    • (1995) J Am Acad Dermatol , vol.32 , pp. 915-935
    • Zvulunov, A.1    Esterly, N.B.2
  • 97
    • 0032719622 scopus 로고    scopus 로고
    • Segmental nerves depigmentosus - Analysis of 20 patients
    • Di Lermia V. Segmental nerves depigmentosus - analysis of 20 patients. Pediatr Dermatol 1999; 16: 349-353.
    • (1999) Pediatr Dermatol , vol.16 , pp. 349-353
    • Di Lermia, V.1
  • 98
    • 0027272703 scopus 로고
    • Nevus depigmentosus systematicus with partial yellow scalp hair due to selective suppression of eumelanogenesis
    • Fukai K, Ishil M, Kadoya A, et al. Nevus depigmentosus systematicus with partial yellow scalp hair due to selective suppression of eumelanogenesis. Pediatr Dermatol 1993; 10: 205-208.
    • (1993) Pediatr Dermatol , vol.10 , pp. 205-208
    • Fukai, K.1    Ishil, M.2    Kadoya, A.3
  • 99
    • 0025785438 scopus 로고
    • Molecular and clinical overlap of Angelman and Prader-Willi Syndrome phenotypes
    • Kirkilionis AJ, Chudley AE, Gregory CA, et al. Molecular and clinical overlap of Angelman and Prader-Willi Syndrome phenotypes. Am J Med Genet 1991; 40: 454.
    • (1991) Am J Med Genet , vol.40 , pp. 454
    • Kirkilionis, A.J.1    Chudley, A.E.2    Gregory, C.A.3
  • 100
    • 0343245112 scopus 로고
    • A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
    • Tietz W. A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Am J Hum Genet 1963; 15: 259-264.
    • (1963) Am J Hum Genet , vol.15 , pp. 259-264
    • Tietz, W.1
  • 101
    • 0011740759 scopus 로고
    • Partial albinism and deaf-mutism due to a recessive sex-linked gene
    • Ziprkowski L, Krakowski A, Adam A, et al. Partial albinism and deaf-mutism due to a recessive sex-linked gene. Arch Dermatol 1962; 86: 530-539.
    • (1962) Arch Dermatol , vol.86 , pp. 530-539
    • Ziprkowski, L.1    Krakowski, A.2    Adam, A.3
  • 102
    • 0014062048 scopus 로고
    • A new oculocerebral syndrome with hypopigmetation
    • Cross He, McKusick VA, Breen W. A new oculocerebral syndrome with hypopigmetation. J Pediater 1976; 70: 398-406.
    • (1976) J Pediater , vol.70 , pp. 398-406
    • Cross, He.1    McKusick, V.A.2    Breen, W.3
  • 103
    • 33646189641 scopus 로고    scopus 로고
    • Vitiligo: Auto-immunity and immune responses
    • Sehgal VN, Srivastava G. Vitiligo: Auto-immunity and immune responses. Int J Dermatol 2006; 45: 583-590.
    • (2006) Int J Dermatol , vol.45 , pp. 583-590
    • Sehgal, V.N.1    Srivastava, G.2
  • 104
    • 0345742508 scopus 로고    scopus 로고
    • Novel vitiligo susceptibility loci chromosome -7 (A1S2) and -8 (A1S3), confirmation of SLEV-1 on chromosome-17, and their role in an autoimmune diathesis
    • Spritz RA, Gowan K, Bennett DC, et al. Novel vitiligo susceptibility loci chromosome -7 (A1S2) and -8 (A1S3), confirmation of SLEV-1 on chromosome-17, and their role in an autoimmune diathesis. Am J Hum Genet 2004; 74: 188-191.
    • (2004) Am J Hum Genet , vol.74 , pp. 188-191
    • Spritz, R.A.1    Gowan, K.2    Bennett, D.C.3
  • 105
    • 0038692071 scopus 로고    scopus 로고
    • A genome wide screen for generalized vitiligo confirmation of A1S1 on chromosome Ip31 and evidence for additional susceptibility loci
    • Fain PR, Gowan K, LaBerge GS, et al. A genome wide screen for generalized vitiligo confirmation of A1S1 on chromosome Ip31 and evidence for additional susceptibility loci. Am J Hum Genet 2003; 72: 1560-1564.
    • (2003) Am J Hum Genet , vol.72 , pp. 1560-1564
    • Fain, P.R.1    Gowan, K.2    LaBerge, G.S.3
  • 106
    • 18344388283 scopus 로고    scopus 로고
    • Mapping of an autoimmunity susceptibility locus (A1S1) to chromosome 1p31.3-p32.2
    • Alkhateeb A, Stekler GL, Old W, et al. Mapping of an autoimmunity susceptibility locus (A1S1) to chromosome 1p31.3-p32.2. Hum Mol Genet 2002; 11: 661-667.
    • (2002) Hum Mol Genet , vol.11 , pp. 661-667
    • Alkhateeb, A.1    Stekler, G.L.2    Old, W.3
  • 107
    • 0013791606 scopus 로고
    • Broad spectrum of leukoderma acquisitum centrifugum
    • Kopf AW, Morrill SD, Silberberg I. Broad spectrum of leukoderma acquisitum centrifugum. Arch Dermatol 1965; 92: 14-35.
    • (1965) Arch Dermatol , vol.92 , pp. 14-35
    • Kopf, A.W.1    Morrill, S.D.2    Silberberg, I.3
  • 108
    • 0003310224 scopus 로고
    • Halo nevus
    • In: Ortonne JP, Mosher DB, Fitzpatrick TB, eds. 1st edn. New York, NY: Plenum Medical
    • Ortonne JP. Halo nevus. In: Ortonne JP, Mosher DB, Fitzpatrick TB, eds. Vitiligo and other hypomelonosis of hair and skin, 1st edn. New York, NY: Plenum Medical, 1983: 567-582.
    • (1983) Vitiligo and Other Hypomelonosis of Hair and Skin , pp. 567-582
    • Ortonne, J.P.1
  • 110
    • 0015891803 scopus 로고
    • Immunological associations of the halo naevus with cutaneous malignant melanoma
    • Copeman PW, Lewis MG, Phillips TM, et al. Immunological associations of the halo naevus with cutaneous malignant melanoma. Br J Dermatol 1973; 88: 127-137.
    • (1973) Br J Dermatol , vol.88 , pp. 127-137
    • Copeman, P.W.1    Lewis, M.G.2    Phillips, T.M.3
  • 113
    • 54749107496 scopus 로고
    • Cutanoeus findings in phenylketonuria
    • Fleisher TL, Zeligman I. Cutanoeus findings in phenylketonuria. Arch Dermatol 1960; 81: 818-902.
    • (1960) Arch Dermatol , vol.81 , pp. 818-902
    • Fleisher, T.L.1    Zeligman, I.2
  • 114
    • 0018532930 scopus 로고
    • Phenylketonuria and its variant
    • Woolf LI. Phenylketonuria and its variant. West J Med 1979; 131: 324-328.
    • (1979) West J Med , vol.131 , pp. 324-328
    • Woolf, L.I.1
  • 115
    • 0018830679 scopus 로고
    • Differential diagnosis of variant forms of hyperphenylalanemia
    • Kaufman S. Differential diagnosis of variant forms of hyperphenylalanemia. Pediatrics 1980; 65: 840-844.
    • (1980) Pediatrics , vol.65 , pp. 840-844
    • Kaufman, S.1
  • 117
    • 0017625890 scopus 로고
    • Homo-cystinuria - Pathogenetic mechanism
    • Grieco AJ. Homo-cystinuria - pathogenetic mechanism. Am J Med Sci 1977; 273: 120-124.
    • (1977) Am J Med Sci , vol.273 , pp. 120-124
    • Grieco, A.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.