메뉴 건너뛰기




Volumn 151, Issue 5, 2004, Pages 953-960

Diagnosis in dysmorphology: Clues from the skin

Author keywords

Dysmorphology; Genodermatoses; Syndrome diagnosis

Indexed keywords

BEHAVIOR DISORDER; DEVELOPMENTAL STABILITY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; FAMILIAL DISEASE; GENETIC COUNSELING; GENETIC RISK; HUMAN; PHYSICAL DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; RECURRENT DISEASE; REVIEW; SKIN DISEASE; SYNDROME DELINEATION; TERATOLOGY;

EID: 9644281601     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2004.06266.x     Document Type: Review
Times cited : (13)

References (69)
  • 2
    • 0033926242 scopus 로고    scopus 로고
    • Pigmentary disorders: Update on neurofibromatosis 1 and tuberous sclerosis
    • Arbuckle HA, Morelli JG. Pigmentary disorders: update on neurofibromatosis 1 and tuberous sclerosis. Curr Opin Pediatr 2000; 12: 354-8.
    • (2000) Curr Opin Pediatr , vol.12 , pp. 354-358
    • Arbuckle, H.A.1    Morelli, J.G.2
  • 3
    • 0023687402 scopus 로고
    • Syndrome of the month: Mucosal neuromata syndrome (MEN type IIB (III)
    • Fryns JP, Chrzanowska K. Syndrome of the month: mucosal neuromata syndrome (MEN type IIB (III). J Med Genet 1988; 25: 703-6.
    • (1988) J Med Genet , vol.25 , pp. 703-706
    • Fryns, J.P.1    Chrzanowska, K.2
  • 4
    • 0032476054 scopus 로고    scopus 로고
    • Nephrogenic rests and the pathogenesis of Wilms tumour: Developmental and clinical considerations
    • Beckwith JB. Nephrogenic rests and the pathogenesis of Wilms tumour: developmental and clinical considerations. Am J Med Genet 1998; 79: 268-73.
    • (1998) Am J Med Genet , vol.79 , pp. 268-273
    • Beckwith, J.B.1
  • 5
    • 0031915657 scopus 로고    scopus 로고
    • Children at increased risk for Wilms tumour: Monitoring issues
    • Beckwith JB. Children at increased risk for Wilms tumour: monitoring issues. J Pediatr 1998; 132: 77-9.
    • (1998) J Pediatr , vol.132 , pp. 77-79
    • Beckwith, J.B.1
  • 6
    • 0035097499 scopus 로고    scopus 로고
    • A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
    • Eng CM, Banikazemi M, Gordon RE et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001; 68: 711-22.
    • (2001) Am J Hum Genet , vol.68 , pp. 711-722
    • Eng, C.M.1    Banikazemi, M.2    Gordon, R.E.3
  • 7
    • 0030031950 scopus 로고    scopus 로고
    • What's in a face?
    • Winter RM. What's in a face? Nat Genet 1996; 12: 130-6.
    • (1996) Nat Genet , vol.12 , pp. 130-136
    • Winter, R.M.1
  • 8
    • 0026666677 scopus 로고
    • High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus
    • Zonana J, Jones M, Browne D et al. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Am J Hum Genet 1992; 51: 1036-46.
    • (1992) Am J Hum Genet , vol.51 , pp. 1036-1046
    • Zonana, J.1    Jones, M.2    Browne, D.3
  • 9
    • 9344250077 scopus 로고    scopus 로고
    • X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
    • Kere J, Baybayan P, Chen EY et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409-16.
    • (1996) Nat Genet , vol.13 , pp. 409-416
    • Kere, J.1    Baybayan, P.2    Chen, E.Y.3
  • 10
    • 0030882307 scopus 로고    scopus 로고
    • Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding
    • Ezer S, Schlessinger D, Srivastava AK et al. Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding. Hum Mol Genet 1997; 6: 1581-9.
    • (1997) Hum Mol Genet , vol.6 , pp. 1581-1589
    • Ezer, S.1    Schlessinger, D.2    Srivastava, A.K.3
  • 13
    • 9644275738 scopus 로고    scopus 로고
    • On Line Mendelian Inheritance in Man (OMIM). 2003 (http://www.ncbi.nlm. nih.gov/Omim).
    • (2003)
  • 14
    • 0027407058 scopus 로고
    • Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys
    • Toriello HV, Lacassie Y, Droste P et al. Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys. Am J Med Genet 1993; 45: 764-6.
    • (1993) Am J Med Genet , vol.45 , pp. 764-766
    • Toriello, H.V.1    Lacassie, Y.2    Droste, P.3
  • 15
    • 0031002840 scopus 로고    scopus 로고
    • Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
    • Kimonis VE, Goldstein AM, Pastakia B et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997; 69: 299-308.
    • (1997) Am J Med Genet , vol.69 , pp. 299-308
    • Kimonis, V.E.1    Goldstein, A.M.2    Pastakia, B.3
  • 16
    • 0037243291 scopus 로고    scopus 로고
    • The molecular genetics of the genodermatoses: Progress to date and future directions
    • Irvine AD, McLean WHI. The molecular genetics of the genodermatoses: progress to date and future directions. Br J Dermatol 2002; 147: 1-13.
    • (2002) Br J Dermatol , vol.147 , pp. 1-13
    • Irvine, A.D.1    McLean, W.H.I.2
  • 17
    • 0028176314 scopus 로고
    • Consequences of varicella and herpes zoster in pregnancy: Prospective study of 1739 cases
    • Enders G, Miller E, Craddock-Watson J et al. Consequences of varicella and herpes zoster in pregnancy: prospective study of 1739 cases. Lancet 1994; i: 1547-50.
    • (1994) Lancet , vol.1 , pp. 1547-1550
    • Enders, G.1    Miller, E.2    Craddock-Watson, J.3
  • 18
    • 0027456833 scopus 로고
    • Congenital malformation of the scalp and cranium after failed first trimester abortion attempt with misoprostol
    • Fonseca W, Alencar AJC, Pereira RMM et al. Congenital malformation of the scalp and cranium after failed first trimester abortion attempt with misoprostol. Clin Dysmorphol 1993; 2: 76-80.
    • (1993) Clin Dysmorphol , vol.2 , pp. 76-80
    • Fonseca, W.1    Alencar, A.J.C.2    Pereira, R.M.M.3
  • 20
    • 0032881718 scopus 로고    scopus 로고
    • The many faces and factors of orofacial clefts
    • Schutte BC, Murray JC. The many faces and factors of orofacial clefts. Hum Mol Genet 1999; 8: 1853-9.
    • (1999) Hum Mol Genet , vol.8 , pp. 1853-1859
    • Schutte, B.C.1    Murray, J.C.2
  • 21
    • 77957216101 scopus 로고
    • Hereditary deformities in man due to arrested development
    • Adams FH, Oliver CP. Hereditary deformities in man due to arrested development. J Hered 1945; 36: 3-7.
    • (1945) J Hered , vol.36 , pp. 3-7
    • Adams, F.H.1    Oliver, C.P.2
  • 22
    • 0023174768 scopus 로고
    • Syndrome of the month: Congenital scalp defects with distal limb reduction anomalies
    • Fryns JP. Syndrome of the month: congenital scalp defects with distal limb reduction anomalies. J Med Genet 1987; 24: 493-6.
    • (1987) J Med Genet , vol.24 , pp. 493-496
    • Fryns, J.P.1
  • 23
    • 0032791831 scopus 로고    scopus 로고
    • Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome
    • Savarirayan R, Thompson EM, Abbott KJ et al. Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome. Am J Med Genet 1999; 86: 15-19.
    • (1999) Am J Med Genet , vol.86 , pp. 15-19
    • Savarirayan, R.1    Thompson, E.M.2    Abbott, K.J.3
  • 25
    • 0030851890 scopus 로고    scopus 로고
    • Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)
    • Coppin BD, Temple IK. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet 1997; 34: 582-6.
    • (1997) J Med Genet , vol.34 , pp. 582-586
    • Coppin, B.D.1    Temple, I.K.2
  • 26
    • 0036074033 scopus 로고    scopus 로고
    • Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
    • Digilio MC, Conti E, Sarkozy A et al. Grouping of multiple-lentigines/ LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002; 71: 389-94.
    • (2002) Am J Hum Genet , vol.71 , pp. 389-394
    • Digilio, M.C.1    Conti, E.2    Sarkozy, A.3
  • 27
    • 0032808274 scopus 로고    scopus 로고
    • Cytogenetic and molecular evidence for cutaneous mosaicism: The ectodermal origin of Blaschko lines
    • Moss C. Cytogenetic and molecular evidence for cutaneous mosaicism: the ectodermal origin of Blaschko lines. Am J Med Genet 1999; 85: 330-3.
    • (1999) Am J Med Genet , vol.85 , pp. 330-333
    • Moss, C.1
  • 28
    • 0030928379 scopus 로고    scopus 로고
    • Menkes disease: Recent advances and new aspects
    • Tumer Z, Horn N. Menkes disease: recent advances and new aspects. J Med Genet 1997; 34: 265-74.
    • (1997) J Med Genet , vol.34 , pp. 265-274
    • Tumer, Z.1    Horn, N.2
  • 29
    • 0027500142 scopus 로고
    • Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
    • Chelly J, Turner Z, Tonnesen T et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993; 3: 14-19.
    • (1993) Nat Genet , vol.3 , pp. 14-19
    • Chelly, J.1    Turner, Z.2    Tonnesen, T.3
  • 32
    • 0032939991 scopus 로고    scopus 로고
    • Mutations in the RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
    • Kitao S, Shimamoto A, Goto M et al. Mutations in the RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999; 22: 82-4.
    • (1999) Nat Genet , vol.22 , pp. 82-84
    • Kitao, S.1    Shimamoto, A.2    Goto, M.3
  • 33
    • 0027943322 scopus 로고
    • Ehlers-Danlos syndrome: Recent advances and current understanding of the clinical and genetic heterogeneity
    • Byers PH. Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol 1994; 103: S47-52.
    • (1994) J Invest Dermatol , vol.103
    • Byers, P.H.1
  • 34
    • 0032574641 scopus 로고
    • Ehlers-Danlos syndromes: Revised nosology. Villefranche, 1997
    • Beighton P, De Paepe A, Steinmann B et al. Ehlers-Danlos syndromes: revised nosology. Villefranche, 1997. Am J Med Genet 1988; 77: 31-7.
    • (1988) Am J Med Genet , vol.77 , pp. 31-37
    • Beighton, P.1    De Paepe, A.2    Steinmann, B.3
  • 35
    • 0033910981 scopus 로고    scopus 로고
    • Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II)
    • Schwarze U, Atkinson M, Huffman GG et al. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet 2000; 66: 1757-65.
    • (2000) Am J Hum Genet , vol.66 , pp. 1757-1765
    • Schwarze, U.1    Atkinson, M.2    Huffman, G.G.3
  • 36
    • 0030877242 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene
    • Yeowell HN, Walker LC. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene. Proc Assoc Am Phys 1997; 109: 383-96.
    • (1997) Proc Assoc Am Phys , vol.109 , pp. 383-396
    • Yeowell, H.N.1    Walker, L.C.2
  • 37
    • 0031833314 scopus 로고    scopus 로고
    • An elastin gene mutation producing tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa
    • Tassabehji M, Metcalfe K, Hurst J et al. An elastin gene mutation producing tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 1998; 7: 1021-8.
    • (1998) Hum Mol Genet , vol.7 , pp. 1021-1028
    • Tassabehji, M.1    Metcalfe, K.2    Hurst, J.3
  • 39
    • 1842283931 scopus 로고
    • Isolation and characterization of a steroid sulphatase cDNA clone: Genomic deletions in patients with X-chromosome-linked ichthyosis
    • Ballabio A, Parenti G, Carrozzo R et al. Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci USA 1987; 84: 4519-23.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 4519-4523
    • Ballabio, A.1    Parenti, G.2    Carrozzo, R.3
  • 40
    • 0024802646 scopus 로고
    • Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
    • Ballabio A, Bardoni B, Carrozzo R et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989; 86: 10001-5.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 10001-10005
    • Ballabio, A.1    Bardoni, B.2    Carrozzo, R.3
  • 41
    • 0032913743 scopus 로고    scopus 로고
    • Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation
    • Biesecker LG, Happle R, Mulliken JB et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999; 84: 389-95.
    • (1999) Am J Med Genet , vol.84 , pp. 389-395
    • Biesecker, L.G.1    Happle, R.2    Mulliken, J.B.3
  • 42
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42: 68-4.
    • (1992) Am J Med Genet , vol.42 , pp. 68-64
    • Nance, M.A.1    Berry, S.A.2
  • 43
    • 0027303168 scopus 로고
    • Cockayne's syndrome: Correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation
    • Lehmann AR, Thompson AF, Harcourt SA et al. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. J Med Genet 1993; 30: 679-82.
    • (1993) J Med Genet , vol.30 , pp. 679-682
    • Lehmann, A.R.1    Thompson, A.F.2    Harcourt, S.A.3
  • 44
    • 0018068489 scopus 로고
    • Depigmentation of hair, skin, and eyes associated with the Apert syndrome
    • Margolis S, Siegel IM, Choy A et al. Depigmentation of hair, skin, and eyes associated with the Apert syndrome. Birth Defects Orig Artic Series 1978; 14: 341-60.
    • (1978) Birth Defects Orig Artic Series , vol.14 , pp. 341-360
    • Margolis, S.1    Siegel, I.M.2    Choy, A.3
  • 45
    • 0028798546 scopus 로고
    • Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    • Wilkie AO, Slaney SF, Oldridge M et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995; 9: 165-72.
    • (1995) Nat Genet , vol.9 , pp. 165-172
    • Wilkie, A.O.1    Slaney, S.F.2    Oldridge, M.3
  • 46
    • 0032578269 scopus 로고    scopus 로고
    • Epidermal mosaicism producing localised acne: Somatic mutation in FGFR2
    • Munro CS, Wilkie AOM. Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet 1998; 352: 704-5.
    • (1998) Lancet , vol.352 , pp. 704-705
    • Munro, C.S.1    Wilkie, A.O.M.2
  • 47
    • 0029929388 scopus 로고    scopus 로고
    • Cytogenetic and molecular analysis in trisomy 12p
    • Allen TL, Brothman AR, Carey JC et al. Cytogenetic and molecular analysis in trisomy 12p. Am J Med Genet 1996; 63: 250-6.
    • (1996) Am J Med Genet , vol.63 , pp. 250-256
    • Allen, T.L.1    Brothman, A.R.2    Carey, J.C.3
  • 48
    • 0028075119 scopus 로고
    • Diploid/triploid mosaicism: Further delineation of the phenotype
    • Carakushansky G, Teich E, Ribeiro MG et al. Diploid/triploid mosaicism: further delineation of the phenotype. Am J Med Genet 1994; 52: 399-401.
    • (1994) Am J Med Genet , vol.52 , pp. 399-401
    • Carakushansky, G.1    Teich, E.2    Ribeiro, M.G.3
  • 49
    • 0026495047 scopus 로고
    • Congenital neonatal herpes simplex virus infection
    • Sarkell B, Blaylock WK, Vernon H. Congenital neonatal herpes simplex virus infection. J Am Acad Dermatol 1992; 27: 817-21.
    • (1992) J Am Acad Dermatol , vol.27 , pp. 817-821
    • Sarkell, B.1    Blaylock, W.K.2    Vernon, H.3
  • 50
    • 0032150427 scopus 로고    scopus 로고
    • Focal dermal hypoplasia (Goltz syndrome)
    • Giam YC, Khoo BP. Focal dermal hypoplasia (Goltz syndrome). Pediatr Dermatol 1998; 15: 399-402.
    • (1998) Pediatr Dermatol , vol.15 , pp. 399-402
    • Giam, Y.C.1    Khoo, B.P.2
  • 51
    • 0023816813 scopus 로고
    • Hypomelanosis of Ito: A manifestation of mosaicism or chimerism
    • Donnai D, Read AP, McKeown C et al. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet 1988; 25: 809-18.
    • (1988) J Med Genet , vol.25 , pp. 809-818
    • Donnai, D.1    Read, A.P.2    McKeown, C.3
  • 52
    • 0033966774 scopus 로고    scopus 로고
    • Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    • Ars E, Serra E, Garcia J et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 2000; 9: 237-47.
    • (2000) Hum Mol Genet , vol.9 , pp. 237-247
    • Ars, E.1    Serra, E.2    Garcia, J.3
  • 53
    • 0027403249 scopus 로고
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome)
    • Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993; 30: 53-9.
    • (1993) J Med Genet , vol.30 , pp. 53-59
    • Landy, S.J.1    Donnai, D.2
  • 54
    • 0034713270 scopus 로고    scopus 로고
    • Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti
    • Smahi A, Courtois G, Vabres P et al. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. Nature 2000; 405: 466-72.
    • (2000) Nature , vol.405 , pp. 466-472
    • Smahi, A.1    Courtois, G.2    Vabres, P.3
  • 55
    • 0029997428 scopus 로고    scopus 로고
    • Dubowitz syndrome: Review of 141 cases including 36 previously unreported patients
    • Tsukahara M, Opitz JM. Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. Am J Med Genet 1996; 63: 277-89.
    • (1996) Am J Med Genet , vol.63 , pp. 277-289
    • Tsukahara, M.1    Opitz, J.M.2
  • 56
    • 0027423908 scopus 로고
    • Brachmann-de Lange syndrome. Delineation of the clinical phenotype
    • Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 1993; 47: 959-64.
    • (1993) Am J Med Genet , vol.47 , pp. 959-964
    • Ireland, M.1    Donnai, D.2    Burn, J.3
  • 57
  • 58
    • 0030051768 scopus 로고    scopus 로고
    • Defects in the DNA repair and transcription gene ERCC2 (XPD) in trichothiodystrophy
    • Takayama K, Salazar E, Broughton BC et al. Defects in the DNA repair and transcription gene ERCC2 (XPD) in trichothiodystrophy. Am J Hum Genet 1996; 58: 263-70.
    • (1996) Am J Hum Genet , vol.58 , pp. 263-270
    • Takayama, K.1    Salazar, E.2    Broughton, B.C.3
  • 59
    • 0026612460 scopus 로고
    • Ataxia telangiectasia in the British Isles: The clinical and laboratory features of 70 affected individuals
    • Woods CG, Taylor AMR. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992; 82: 169-79.
    • (1992) Q J Med , vol.82 , pp. 169-179
    • Woods, C.G.1    Taylor, A.M.R.2
  • 60
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to Pl-3 kinase
    • Savitsky K, Bar-Shira A, Gilad S et al. A single ataxia telangiectasia gene with a product similar to Pl-3 kinase. Science 1995; 268: 1749-53.
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1    Bar-Shira, A.2    Gilad, S.3
  • 62
    • 9844227900 scopus 로고    scopus 로고
    • Macrocephaly with cutis marmorata, haemangioma and syndactyly-a distinctive overgrowth syndrome
    • Clayton-Smith J, Kerr B, Brunner H et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly-a distinctive overgrowth syndrome. Clin Dysmorphol 1997; 6: 291-302.
    • (1997) Clin Dysmorphol , vol.6 , pp. 291-302
    • Clayton-Smith, J.1    Kerr, B.2    Brunner, H.3
  • 63
    • 0028299414 scopus 로고
    • A case of Hutchinson-Gilford progeria syndrome mimicking scleredema in early infancy
    • Erdem N, Gunes AT, Avci O et al. A case of Hutchinson-Gilford progeria syndrome mimicking scleredema in early infancy. Dermatology 1994; 188: 318-21.
    • (1994) Dermatology , vol.188 , pp. 318-321
    • Erdem, N.1    Gunes, A.T.2    Avci, O.3
  • 64
    • 0027202266 scopus 로고
    • Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology
    • Zampino G, Mastroiacovo P, Ricci R et al. Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. Am J Med Genet 1993; 47: 176-83.
    • (1993) Am J Med Genet , vol.47 , pp. 176-183
    • Zampino, G.1    Mastroiacovo, P.2    Ricci, R.3
  • 66
    • 0031203265 scopus 로고    scopus 로고
    • Germline mutations in PTEN are present in Bannayan-Zonana syndrome
    • Marsh DJ, Dahia PLM, Zheng Z et al. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 1997; 16: 333-4.
    • (1997) Nat Genet , vol.16 , pp. 333-334
    • Marsh, D.J.1    Dahia, P.L.M.2    Zheng, Z.3
  • 68
    • 0142091197 scopus 로고    scopus 로고
    • Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
    • Hanks S, Adams S, Douglas J et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003; 73: 791-800.
    • (2003) Am J Hum Genet , vol.73 , pp. 791-800
    • Hanks, S.1    Adams, S.2    Douglas, J.3
  • 69
    • 15844386165 scopus 로고    scopus 로고
    • Mutations of the human homolog of Drosophilia patched in the nevoid basal cell carcinoma syndrome
    • Hahn H, Gillies S, Negus K et al. Mutations of the human homolog of Drosophilia patched in the nevoid basal cell carcinoma syndrome. Cell 1996; 85: 841-52.
    • (1996) Cell , vol.85 , pp. 841-852
    • Hahn, H.1    Gillies, S.2    Negus, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.