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Volumn 38, Issue 9, 1999, Pages 656-663

Waardenburg syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ALBINISM; CLINICAL FEATURE; CONGENITAL DEAFNESS; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; HETEROTOPIA; INCIDENCE; PATHOGENESIS; PIEBALDISM; PREVALENCE; REVIEW; WAARDENBURG SYNDROME;

EID: 0004870328     PISSN: 00119059     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-4362.1999.00750.x     Document Type: Review
Times cited : (74)

References (92)
  • 1
    • 0030739603 scopus 로고    scopus 로고
    • Waardenburg syndrome
    • Read AP, Newton VE. Waardenburg syndrome. J Med Genet 1997; 34: 656-665.
    • (1997) J Med Genet , vol.34 , pp. 656-665
    • Read, A.P.1    Newton, V.E.2
  • 2
    • 4243215484 scopus 로고
    • Zur kenntnis der hereditärdegenerativen Taubstummheit, v. Über pathologische Augenbefunde bei Taubstummen und ihre differential-diagnostische Bedentung
    • Hammerschlag V. Zur Kenntnis der hereditärdegenerativen Taubstummheit, v. Über pathologische Augenbefunde bei Taubstummen und ihre differential-diagnostische Bedentung. Zsehr Ohrenh 1907; 54: 18-36.
    • (1907) Zsehr Ohrenh , vol.54 , pp. 18-36
    • Hammerschlag, V.1
  • 3
    • 0009706570 scopus 로고
    • Zur Aetiologie der Taunstummheit in Hinsberg's
    • Urbantschitsch E. Zur Aetiologie der Taunstummheit in Hinsberg's. Verh Dtsch Otol Ges Jena 1910; 350: 153-155.
    • (1910) Verh Dtsch Otol Ges Jena , vol.350 , pp. 153-155
    • Urbantschitsch, E.1
  • 4
    • 0009730678 scopus 로고
    • Augenanormalien bei bongenital -familiärer Taubheit und bei Labyrintherkrankung
    • Van der Hoeve J. Augenanormalien bei bongenital -familiärer Taubheit und bei Labyrintherkrankung. Klin Mbl Augenkd 1913; 51: 461-470.
    • (1913) Klin Mbl Augenkd , vol.51 , pp. 461-470
    • Van Der Hoeve, J.1
  • 5
    • 0000584842 scopus 로고
    • Dystopia punctorum lacrimalium, blepharophimosis en patiale irisatrophie bij een doofstomme
    • Waardenburg PJ. Dystopia punctorum lacrimalium, blepharophimosis en patiale irisatrophie bij een doofstomme. Ned Tijdschr Geneeskd 1948; 92: 3463-3465.
    • (1948) Ned Tijdschr Geneeskd , vol.92 , pp. 3463-3465
    • Waardenburg, P.J.1
  • 6
    • 84956899880 scopus 로고
    • Albinisme partiel (leucisme) accompagnê de surdi-mutitê, d'ostêomyodysplasie, de raideurs articulaires congenitales multiples et d'autres malformations congênitales
    • Klein D. Albinisme partiel (leucisme) accompagnê de surdi-mutitê, d'ostêomyodysplasie, de raideurs articulaires congenitales multiples et d'autres malformations congênitales. Arch Juliusklaus Stiftung 1947; 22: 336-342.
    • (1947) Arch Juliusklaus Stiftung , vol.22 , pp. 336-342
    • Klein, D.1
  • 7
    • 0009715116 scopus 로고
    • Albinisme partiel (Leucisme) avec surdi-mutitê, blêpharophimosis et dysplasie myo-ostêo-articulaire
    • Klein D. Albinisme partiel (Leucisme) avec surdi-mutitê, blêpharophimosis et dysplasie myo-ostêo-articulaire. Helv Paediatr Acta 1950; 5: 38-58.
    • (1950) Helv Paediatr Acta , vol.5 , pp. 38-58
    • Klein, D.1
  • 8
    • 76949125703 scopus 로고
    • Dystopia canthi medialis et punctorum lacrimalium lateroversa, hyperplasia supercilii medialis et readicis nasi, heterochromia iridum totalis sive partialis, albinismus circumscriptus (leucismus, poliosis), et surditas congenita (surdimutitas)
    • Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Dystopia canthi medialis et punctorum lacrimalium lateroversa, hyperplasia supercilii medialis et readicis nasi, heterochromia iridum totalis sive partialis, albinismus circumscriptus (leucismus, poliosis), et surditas congenita (surdimutitas). Am J Hum Genet 1951; 3: 195-253.
    • (1951) Am J Hum Genet , vol.3 , pp. 195-253
    • Waardenburg, P.J.1
  • 9
    • 0009682357 scopus 로고
    • A new syndrome, of importance for oculists and ear specialists
    • Waardenburg PJ. A new syndrome, of importance for oculists and ear specialists. Ophthalmologica (Basel) 1952; 123: 184-186.
    • (1952) Ophthalmologica (Basel) , vol.123 , pp. 184-186
    • Waardenburg, P.J.1
  • 10
    • 0014056474 scopus 로고
    • Pigmentary disorders in association with congenital deafness
    • Reed WB, Stone VM, Boder E, Ziprkowski L. Pigmentary disorders in association with congenital deafness (with discussion). 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    Ziprkowski, L.4
  • 13
    • 0027717881 scopus 로고
    • Spontaneous contraction of leukodermic patches in Waardenburg syndrome
    • Chang T, Hashimoto K, Bawle EV. Spontaneous contraction of leukodermic patches in Waardenburg syndrome. J Dermatol (Tokyo) 1993; 20: 707-711.
    • (1993) J Dermatol (Tokyo) , vol.20 , pp. 707-711
    • Chang, T.1    Hashimoto, K.2    Bawle, E.V.3
  • 14
    • 0030913922 scopus 로고    scopus 로고
    • Un cas de syndrome de Waardenburg-Klein observé au C.N.H.U. de Cotonou
    • Bassabi SK, Medji APL, Doutetien C, et al. Un cas de syndrome de Waardenburg-Klein observé au C.N.H.U. de Cotonou. J Franc Ophthalmol 1997; 20: 387-390.
    • (1997) J Franc Ophthalmol , vol.20 , pp. 387-390
    • Bassabi, S.K.1    Medji, A.P.L.2    Doutetien, C.3
  • 15
    • 0033088171 scopus 로고    scopus 로고
    • Waardenburg syndrome with facial palsy and lingua plicata: Is that a new type of disease?
    • Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome with facial palsy and lingua plicata: is that a new type of disease? Cutis 1999; 63: 139-141.
    • (1999) Cutis , vol.63 , pp. 139-141
    • Dourmishev, A.L.1    Dourmishev, L.A.2    Schwartz, R.A.3    Janniger, C.K.4
  • 17
    • 0031436220 scopus 로고    scopus 로고
    • Waardenburg syndrome type II in a Taiwanese woman with a family history of pseudoxanthoma elasticum
    • Marcini AJ. Waardenburg syndrome type II in a Taiwanese woman with a family history of pseudoxanthoma elasticum. Int J Dermatol 1997; 36: 916-937.
    • (1997) Int J Dermatol , vol.36 , pp. 916-937
    • Marcini, A.J.1
  • 18
    • 0030979154 scopus 로고    scopus 로고
    • Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
    • Morell R, Spritz RA, Ho L, et al. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Molec Genet 1997; 6: 659-664.
    • (1997) Hum Molec Genet , vol.6 , pp. 659-664
    • Morell, R.1    Spritz, R.A.2    Ho, L.3
  • 19
    • 0031872623 scopus 로고    scopus 로고
    • Clinical and morphological features of Waardenburg syndrome type II
    • Mullaney PB, Parsons MA, Weatherhead RG, Karcioglu ZA. Clinical and morphological features of Waardenburg syndrome type II. Eye 1998; 12 (3A): 353-357.
    • (1998) Eye , vol.12 , Issue.3 A , pp. 353-357
    • Mullaney, P.B.1    Parsons, M.A.2    Weatherhead, R.G.3    Karcioglu, Z.A.4
  • 20
    • 0031923931 scopus 로고    scopus 로고
    • Septo-optic dysplasia and WSI in the proband of a WSI family segregating for a novel mutation in PAX3 exon 7
    • Carey ML, Friedman TB, Asher JH, Innis JW. Septo-optic dysplasia and WSI in the proband of a WSI family segregating for a novel mutation in PAX3 exon 7. J Med Genet 1998; 35: 248-250.
    • (1998) J Med Genet , vol.35 , pp. 248-250
    • Carey, M.L.1    Friedman, T.B.2    Asher, J.H.3    Innis, J.W.4
  • 21
    • 0031613097 scopus 로고    scopus 로고
    • Waardenburg syndrome - Variable phenotypic expression in monozygotic twin
    • Suyugul Z, Tuysuz B, Tukenmez F, et al. Waardenburg syndrome - variable phenotypic expression in monozygotic twin. Clin Dysmorphol 1998; 7: 77-78.
    • (1998) Clin Dysmorphol , vol.7 , pp. 77-78
    • Suyugul, Z.1    Tuysuz, B.2    Tukenmez, F.3
  • 22
    • 0031776503 scopus 로고    scopus 로고
    • A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2
    • Wang C, Kim E, Attaie A, et al. A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2. Molec Cellul Probes 1998; 12: 55-57.
    • (1998) Molec Cellul Probes , vol.12 , pp. 55-57
    • Wang, C.1    Kim, E.2    Attaie, A.3
  • 23
    • 0031170823 scopus 로고    scopus 로고
    • A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WSI)
    • Attaie A, Kim E, Wilcox ER, Lalwani AK. A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WSI). Molec Cellul Probes 1997; 11: 233-236.
    • (1997) Molec Cellul Probes , vol.11 , pp. 233-236
    • Attaie, A.1    Kim, E.2    Wilcox, E.R.3    Lalwani, A.K.4
  • 24
    • 0014002306 scopus 로고
    • Waardenburg's syndrome with fundus and other anomalies
    • Goldberg MF. Waardenburg's syndrome with fundus and other anomalies. Arch Ophthalmol 1966; 76: 797-819.
    • (1966) Arch Ophthalmol , vol.76 , pp. 797-819
    • Goldberg, M.F.1
  • 25
    • 0022588581 scopus 로고
    • Waardenburg's syndrome with Hirschsprung's disease: A neural crest defect
    • Mallory SB, Wiener E, Nordlund JJ. Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. Pediatr Dermatol 1986; 3: 119-124.
    • (1986) Pediatr Dermatol , vol.3 , pp. 119-124
    • Mallory, S.B.1    Wiener, E.2    Nordlund, J.J.3
  • 26
    • 0017858234 scopus 로고
    • Waardenburg's syndrome in Kenyan Africans
    • Hageman MJ. Waardenburg's syndrome in Kenyan Africans. Trop Geog Med 1978; 30: 45-55.
    • (1978) Trop Geog Med , vol.30 , pp. 45-55
    • Hageman, M.J.1
  • 29
    • 0017717038 scopus 로고
    • Heterogeneity in Waardenburg syndrome
    • Hageman MJ, Delleman JW. Heterogeneity in Waardenburg syndrome. Am J Hum Genet 1977; 29: 468-485.
    • (1977) Am J Hum Genet , vol.29 , pp. 468-485
    • Hageman, M.J.1    Delleman, J.W.2
  • 31
    • 0029028059 scopus 로고
    • Mutations in PAX3 that cause Waardenburg syndrome type I. Ten new mutations and review of the literature
    • Baldwin CT, Hoth CF, Macina RA, Milunsky A. Mutations in PAX3 that cause Waardenburg syndrome type I. Ten new mutations and review of the literature. Am J Med Genet 1995; 58: 115-122.
    • (1995) Am J Med Genet , vol.58 , pp. 115-122
    • Baldwin, C.T.1    Hoth, C.F.2    Macina, R.A.3    Milunsky, A.4
  • 32
    • 0009715239 scopus 로고
    • An english family with Waardenburg's syndrome
    • Partington MW. An English family with Waardenburg's syndrome. Arch Dis Child 1959; 34: 154-157.
    • (1959) Arch Dis Child , vol.34 , pp. 154-157
    • Partington, M.W.1
  • 33
    • 0018191979 scopus 로고
    • Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints in the diagnosis of dystopia canthorum
    • Arias S, Mota A. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints in the diagnosis of dystopia canthorum. J Genet Hum 1978; 26: 103-131.
    • (1978) J Genet Hum , vol.26 , pp. 103-131
    • Arias, S.1    Mota, A.2
  • 34
    • 0018131067 scopus 로고
    • Ophthalmologic findings in 34 patients with Waardenburg syndrome
    • Delleman JW, Hageman MJ. Ophthalmologic findings in 34 patients with Waardenburg syndrome. J Pediatr Ophthalmol Strabism 1978; 15: 341-345.
    • (1978) J Pediatr Ophthalmol Strabism , vol.15 , pp. 341-345
    • Delleman, J.W.1    Hageman, M.J.2
  • 36
    • 70449325548 scopus 로고
    • Deafness as part of an hereditary syndrome
    • Fisch L. Deafness as part of an hereditary syndrome. J Laryngol Otol 1959; 73: 353-362.
    • (1959) J Laryngol Otol , vol.73 , pp. 353-362
    • Fisch, L.1
  • 37
    • 70449325548 scopus 로고
    • Deafness as part of an hereditary syndrome
    • Friedman I, Fisch L. Deafness as part of an hereditary syndrome. J Laryngol Otol 1959; 73: 363-382.
    • (1959) J Laryngol Otol , vol.73 , pp. 363-382
    • Friedman, I.1    Fisch, L.2
  • 38
    • 0009745245 scopus 로고
    • Tomography of the inner ear in a case of Waardenburg syndrome
    • Jansen J. Tomography of the inner ear in a case of Waardenburg syndrome. Am J Roentg 1967; 101: 827-833.
    • (1967) Am J Roentg , vol.101 , pp. 827-833
    • Jansen, J.1
  • 40
    • 0017366806 scopus 로고
    • Ultrastructural study of leucodermic skin in Waardenburg-Klein syndrome
    • Perrot H, Ortonne JP, Thivolet J. Ultrastructural study of leucodermic skin in Waardenburg-Klein syndrome. Acta Derm Venereol (Stockh) 1977; 57: 195-200.
    • (1977) Acta Derm Venereol (Stockh) , vol.57 , pp. 195-200
    • Perrot, H.1    Ortonne, J.P.2    Thivolet, J.3
  • 41
    • 0009679585 scopus 로고
    • Zur Ultrastruktur der Haut beim Klein-Waardenburg syndrom
    • Antoan-Lemprecht I, Klein D, Goos M. Zur Ultrastruktur der Haut beim Klein-Waardenburg Syndrom. Hautarzt 1972; 23: 461-473.
    • (1972) Hautarzt , vol.23 , pp. 461-473
    • Antoan-Lemprecht, I.1    Klein, D.2    Goos, M.3
  • 42
  • 43
    • 0014164053 scopus 로고
    • Waardenburg's syndrome during the first year of life
    • Feingold M, Robinson MJ, Gellis SS, et al. Waardenburg's syndrome during the first year of life. J Pediatr 1967; 71: 874-876.
    • (1967) J Pediatr , vol.71 , pp. 874-876
    • Feingold, M.1    Robinson, M.J.2    Gellis, S.S.3
  • 44
    • 0015105456 scopus 로고
    • A case of Waardenburg's syndrome
    • Pryor HB. A case of Waardenburg's syndrome. Am J Dis Child 1971; 122: 177-178.
    • (1971) Am J Dis Child , vol.122 , pp. 177-178
    • Pryor, H.B.1
  • 46
    • 0009682359 scopus 로고
    • La meche frontale blanche et la myopie comme facteurs 'indicateurs' du syndrome de Waardenburg-Klein
    • Couteau-Lagarde JM, Collier M. La meche frontale blanche et la myopie comme facteurs 'indicateurs' du syndrome de Waardenburg-Klein. J Genet Hum 1963; 12: 146-153.
    • (1963) J Genet Hum , vol.12 , pp. 146-153
    • Couteau-Lagarde, J.M.1    Collier, M.2
  • 47
    • 0009705637 scopus 로고
    • Waardenburg's syndrome: A variation of the first arch syndrome
    • Campbell B, Campbell NR, Swift S. Waardenburg's syndrome: a variation of the first arch syndrome. Arch Dermatol 1962; 86: 718-724.
    • (1962) Arch Dermatol , vol.86 , pp. 718-724
    • Campbell, B.1    Campbell, N.R.2    Swift, S.3
  • 48
    • 8244263673 scopus 로고    scopus 로고
    • Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
    • Coyle B, Coffey R, Armour JA, et al. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nature Genet 1996; 12: 421-423.
    • (1996) Nature Genet , vol.12 , pp. 421-423
    • Coyle, B.1    Coffey, R.2    Armour, J.A.3
  • 49
    • 0029890469 scopus 로고    scopus 로고
    • Two different PAX3 gene mutations causing Waardenburg syndrome type I
    • Wildhardt G, Winterpacht A, Hilbert K, et al. Two different PAX3 gene mutations causing Waardenburg syndrome type I. Molec Cellul Probes 1996; 10: 229-231.
    • (1996) Molec Cellul Probes , vol.10 , pp. 229-231
    • Wildhardt, G.1    Winterpacht, A.2    Hilbert, K.3
  • 50
    • 0030030303 scopus 로고    scopus 로고
    • Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
    • Asher JH Jr, Sommer A, Morell R, Friedman TB. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Hum Mutat 1996; 7: 30-35.
    • (1996) Hum Mutat , vol.7 , pp. 30-35
    • Asher J.H., Jr.1    Sommer, A.2    Morell, R.3    Friedman, T.B.4
  • 51
    • 13344281005 scopus 로고    scopus 로고
    • Phenotypic variation in Waardenburg syndrome: Mutational heterogeneity, modifier genes or polygenic background?
    • Pandya A, Xia XJ, Landa BL, et al. Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background? Hum Mol Genet 1996; 5: 497-502.
    • (1996) Hum Mol Genet , vol.5 , pp. 497-502
    • Pandya, A.1    Xia, X.J.2    Landa, B.L.3
  • 52
    • 0027272710 scopus 로고
    • Two sibs with unbalanced translocations in the Waardenburg gene region
    • al Gazali LI, Quaife R. Two sibs with unbalanced translocations in the Waardenburg gene region. J Med Genet 1993; 30: 607-609.
    • (1993) J Med Genet , vol.30 , pp. 607-609
    • Al Gazali, L.I.1    Quaife, R.2
  • 53
    • 0030585759 scopus 로고    scopus 로고
    • Effects of PAX3 modifier genes on craniofacial morphology, pigmentation and viability: A murine model of Waardenburg syndrome variation
    • Asher JH Jr, Harrison RW, Morell R, et al. Effects of PAX3 modifier genes on craniofacial morphology, pigmentation and viability: a murine model of Waardenburg syndrome variation. Genomics 1996; 34: 285-298.
    • (1996) Genomics , vol.34 , pp. 285-298
    • Asher J.H., Jr.1    Harrison, R.W.2    Morell, R.3
  • 54
    • 0028908831 scopus 로고
    • Waardenburg syndrome type II. Phenotypic findings and diagnostic criteria
    • Liu XZ, Newton VE, Read AP. Waardenburg syndrome type II. Phenotypic 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
  • 55
    • 0027943189 scopus 로고
    • Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
    • Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet 1994; 8: 251-255.
    • (1994) Nature Genet , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 56
    • 0027966022 scopus 로고
    • A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1
    • Hughes AE, Newton VE, Liu XZ, Read AP. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nature Genet 1994; 7: 509-512.
    • (1994) Nature Genet , vol.7 , pp. 509-512
    • Hughes, A.E.1    Newton, V.E.2    Liu, X.Z.3    Read, A.P.4
  • 57
    • 0031062502 scopus 로고    scopus 로고
    • Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A
    • Tachibana M. Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A. Pigment Cell Res 1997; 10: 25-33.
    • (1997) Pigment Cell Res , vol.10 , pp. 25-33
    • Tachibana, M.1
  • 58
    • 0030012628 scopus 로고    scopus 로고
    • Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A
    • Nobukuni Y, Watanabe A, Takeda K, et al. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Am J Hum Genet 1996; 59: 76-83.
    • (1996) Am J Hum Genet , vol.59 , pp. 76-83
    • Nobukuni, Y.1    Watanabe, A.2    Takeda, K.3
  • 59
    • 0030178774 scopus 로고    scopus 로고
    • A novel mutation in the MITF gene causes Waardenburg syndrome type 2
    • Lautenschlager NT, Milunsky A, DeStefano A, et al. A novel mutation in the MITF gene causes Waardenburg syndrome type 2. Genet Anal 1996; 13: 43-44.
    • (1996) Genet Anal , vol.13 , pp. 43-44
    • Lautenschlager, N.T.1    Milunsky, A.2    DeStefano, A.3
  • 60
    • 0013772219 scopus 로고
    • Nouvelle observation de la forme grave du syndrome Klein-Waardenburg
    • Wibbrandt HR, Ammann F. Nouvelle observation de la forme grave du syndrome Klein-Waardenburg. Arch Klaus Sift Vererbungs Forsch 1964; 39: 80-82.
    • (1964) Arch Klaus Sift Vererbungs Forsch , vol.39 , pp. 80-82
    • Wibbrandt, H.R.1    Ammann, F.2
  • 61
    • 0027439075 scopus 로고
    • Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)
    • Hoth CF, Milunsky A, Lipsky N, et al. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 1993; 52: 455-462.
    • (1993) Am J Hum Genet , vol.52 , pp. 455-462
    • Hoth, C.F.1    Milunsky, A.2    Lipsky, N.3
  • 62
    • 0028952247 scopus 로고
    • Homozygosity for Waardenburg syndrome
    • Zlotogora J, Lerer I, Bar-David S, et al. Homozygosity for Waardenburg syndrome. Am J Hum Genet 1995; 56: 1173-1178.
    • (1995) Am J Hum Genet , vol.56 , pp. 1173-1178
    • Zlotogora, J.1    Lerer, I.2    Bar-David, S.3
  • 63
    • 0027170114 scopus 로고
    • Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35
    • Pasteris NG, Trask BJ, Sheldon S, Gorski JL. Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. Hum Mol Genet 1993; 2: 953-959.
    • (1993) Hum Mol Genet , vol.2 , pp. 953-959
    • Pasteris, N.G.1    Trask, B.J.2    Sheldon, S.3    Gorski, J.L.4
  • 65
    • 9044220230 scopus 로고    scopus 로고
    • Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
    • Amiel J, Attie T, Jan D, et al. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet 1996; 5: 355-357.
    • (1996) Hum Mol Genet , vol.5 , pp. 355-357
    • Amiel, J.1    Attie, T.2    Jan, D.3
  • 66
    • 0029962460 scopus 로고    scopus 로고
    • Waardenburg-Hirschsprung disease in two sisters: A possible clue to the genetics of this association?
    • Bonnet JP, Till M, Edery P, et al. Waardenburg-Hirschsprung disease in two sisters: a possible clue to the genetics of this association? Eur J Pediatr Surg 1996; 6: 245-248.
    • (1996) Eur J Pediatr Surg , vol.6 , pp. 245-248
    • Bonnet, J.P.1    Till, M.2    Edery, P.3
  • 67
    • 0009675716 scopus 로고    scopus 로고
    • A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
    • Hofstra RM, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genet 1996; 12: 445-447.
    • (1996) Nature Genet , vol.12 , pp. 445-447
    • Hofstra, R.M.1    Osinga, J.2    Tan-Sindhunata, G.3
  • 68
    • 0006457459 scopus 로고    scopus 로고
    • Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
    • Edery P, Attie T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet 1996; 12: 442-444.
    • (1996) Nature Genet , vol.12 , pp. 442-444
    • Edery, P.1    Attie, T.2    Amiel, J.3
  • 69
    • 0029131330 scopus 로고
    • Chromosome 13q deletion with Waardenburg syndrome: Further evidence for a gene involved in neural crest function on 13q
    • Van Camp G, Thienen MN, Handig I, et al. Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J Med Genet 1995; 32: 531-536.
    • (1995) J Med Genet , vol.32 , pp. 531-536
    • Van Camp, G.1    Thienen, M.N.2    Handig, I.3
  • 70
  • 71
    • 0002514166 scopus 로고
    • Three generations of deaf white cats
    • Wolff D. Three generations of deaf white cats. J Hered 1942; 33: 39-43.
    • (1942) J Hered , vol.33 , pp. 39-43
    • Wolff, D.1
  • 73
    • 0009683194 scopus 로고
    • Inherited defects in dogs
    • Young GB. Inherited defects in dogs. Vet Rec 1955; 67: 15-19.
    • (1955) Vet Rec , vol.67 , pp. 15-19
    • Young, G.B.1
  • 75
    • 0009679586 scopus 로고
    • A piebald family
    • Cockayne EA. A piebald family. Biometrika 1914; 10: 197-100.
    • (1914) Biometrika , vol.10 , pp. 197-1100
    • Cockayne, E.A.1
  • 76
    • 0009680127 scopus 로고
    • Long heredity of partial albinism
    • Mazzini G. Long heredity of partial albinism (Abstract). Gass Osp Milano 1923; 45: 403.
    • (1923) Gass Osp Milano , vol.45 , pp. 403
    • Mazzini, G.1
  • 77
    • 0009682463 scopus 로고
    • Ueber Vererbung und Lokalisation der Scheckenbildung sowie ihre Bedeutung für die Naevusätilogie
    • Mierowsky, Spickernagel. Ueber Vererbung und Lokalisation der Scheckenbildung sowie ihre Bedeutung für die Naevusätilogie. Arch Dermatol Syph (Berlin) 1926; 150: 384-392.
    • (1926) Arch Dermatol Syph (Berlin) , vol.150 , pp. 384-392
    • Mierowsky, S.1
  • 78
    • 0009705638 scopus 로고
    • A human mosaic involving eye and hair color differences
    • Ahuja YR. A human mosaic involving eye and hair color differences. Acta Genet Med Gemeliol (Roma) 1960; 9: 427-431.
    • (1960) Acta Genet Med Gemeliol (Roma) , vol.9 , pp. 427-431
    • Ahuja, Y.R.1
  • 79
    • 0001785840 scopus 로고
    • Albinism among Indians in Arizona and New Mexico
    • Woolf CM. Albinism among Indians in Arizona and New Mexico. Am J Hum Genet 1965; 17: 23-35.
    • (1965) Am J Hum Genet , vol.17 , pp. 23-35
    • Woolf, C.M.1
  • 80
    • 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
  • 81
    • 0015467471 scopus 로고
    • Poikilodermia alba (albinismus circumscriptus)
    • Van Velde JK. Poikilodermia alba (albinismus circumscriptus). Dermatologica (Basel) 1972; 145: 9-15.
    • (1972) Dermatologica (Basel) , vol.145 , pp. 9-15
    • Van Velde, J.K.1
  • 84
    • 0015014451 scopus 로고
    • Autosomal recessive deafness associated with short stature, vitiligo, muscle wasting and achalasia
    • Rozycki DL, Reuben RJ, Rapin I, Spiro AJ. Autosomal recessive deafness associated with short stature, vitiligo, muscle wasting and achalasia. Arch Otolaryngol 1971; 93: 194-197.
    • (1971) Arch Otolaryngol , vol.93 , pp. 194-197
    • Rozycki, D.L.1    Reuben, R.J.2    Rapin, I.3    Spiro, A.J.4
  • 86
    • 0009725616 scopus 로고
    • Uber eine familie hereditar degenerativer Taunbstummer mit mongoloidem Einschlag und teilweisem Leukismus der Haut und Haare
    • Mende I. Uber eine Familie hereditar degenerativer Taunbstummer mit mongoloidem Einschlag und teilweisem Leukismus der Haut und Haare. Arch Kinderhelikd 1926; 79: 214-222.
    • (1926) Arch Kinderhelikd , vol.79 , pp. 214-222
    • Mende, I.1
  • 87
    • 0009749850 scopus 로고
    • Geval van pigmentanomaliie en doofheid
    • Van Gilse PH. Geval van pigmentanomaliie en doofheid. Ned Tijdschr Geneeskd 1926; 70: 479-480.
    • (1926) Ned Tijdschr Geneeskd , vol.70 , pp. 479-480
    • Van Gilse, P.H.1
  • 88
    • 0015351196 scopus 로고
    • Hereditary childhood hearing loss and integumentary system disease
    • Konigsmark BW. Hereditary childhood hearing loss and integumentary system disease. J Pediatr 1971; 80: 909-919.
    • (1971) J Pediatr , vol.80 , pp. 909-919
    • Konigsmark, B.W.1
  • 90
  • 91
    • 0023893167 scopus 로고
    • Piebaldism, Waardenburg's syndrome, and related disorders. 'Neural crest depigmentation syndrome'
    • Ortonne JP. Piebaldism, Waardenburg's syndrome, and related disorders. 'Neural crest depigmentation syndrome'. Dermatol Clin 1988; 6: 210-212.
    • (1988) Dermatol Clin , vol.6 , pp. 210-212
    • Ortonne, J.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.