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Volumn 27, Issue 6, 2010, Pages 643-645

ADULT syndrome caused by a mutation previously associated with EEC Syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ACRO DERMATO UNGUAL LACRIMAL TOOTH SYNDROME; ADOLESCENT; ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; HUMAN; HYPODONTIA; IMMUNOGLOBULIN A DEFICIENCY; LABORATORY TEST; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

EID: 78650082574     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2010.01131.x     Document Type: Article
Times cited : (20)

References (11)
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    • Celli, J.1    Duijf, P.2    Hamel, B.C.3
  • 2
    • 0027526290 scopus 로고
    • ADULT-syndrome: An autosomal dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia
    • Propping P, Zerres K,. ADULT-syndrome: an autosomal dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Am J Med Genet 1993; 45: 642-648.
    • (1993) Am J Med Genet , vol.45 , pp. 642-648
    • Propping, P.1    Zerres, K.2
  • 3
    • 33750603362 scopus 로고    scopus 로고
    • Further phenotypic and genetic variation in ADULT syndrome
    • Reisler TT, Paton MA, Meagher PP,. Further phenotypic and genetic variation in ADULT syndrome. Am J Med Genet A 2006; 140: 2495-2500.
    • (2006) Am J Med Genet A , vol.140 , pp. 2495-2500
    • Reisler, T.T.1    Paton, M.A.2    Meagher, P.P.3
  • 5
    • 34547856257 scopus 로고    scopus 로고
    • P63: Defining roles in morphogenesis, homeostasis, and neoplasia of the epidermis
    • King EK, Weinberg WC,. p63: defining roles in morphogenesis, homeostasis, and neoplasia of the epidermis. Mol Carcinog 2007; 46: 716-724.
    • (2007) Mol Carcinog , vol.46 , pp. 716-724
    • King, E.K.1    Weinberg, W.C.2
  • 6
    • 1642538322 scopus 로고    scopus 로고
    • The role of p63 in development and differentiation of the epidermis
    • Koster MI, Roop DR,. The role of p63 in development and differentiation of the epidermis. J Dermatol Sci 2004; 34: 3-9.
    • (2004) J Dermatol Sci , vol.34 , pp. 3-9
    • Koster, M.I.1    Roop, D.R.2
  • 7
    • 40949141331 scopus 로고    scopus 로고
    • P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle
    • Shimomura Y, Wajid M, Shapiro L, et al. P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. Development 2008; 135: 743-753.
    • (2008) Development , vol.135 , pp. 743-753
    • Shimomura, Y.1    Wajid, M.2    Shapiro, L.3
  • 8
    • 33847623675 scopus 로고    scopus 로고
    • P63 induces key target genes required for epidermal morphogenesis
    • Koster MI, Dai D, Marinari B, et al. p63 induces key target genes required for epidermal morphogenesis. Proc Natl Acad Sci USA 2007; 104: 3255-3260.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 3255-3260
    • Koster, M.I.1    Dai, D.2    Marinari, B.3
  • 9
    • 33745631827 scopus 로고    scopus 로고
    • Pattern of p63 mutations and their phenotypes-update
    • Rinne T, Hamel B, Van Bokhoven H, et al. Pattern of p63 mutations and their phenotypes-update. Am J Med Genet 2006; 140A: 1396-1406.
    • (2006) Am J Med Genet , vol.140 A , pp. 1396-1406
    • Rinne, T.1    Hamel, B.2    Van Bokhoven, H.3
  • 10
    • 33644819856 scopus 로고    scopus 로고
    • Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings
    • Steele JA, Hansen H, Arn P, et al. Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings. Pediatr Dermatol 2005; 22: 415-419.
    • (2005) Pediatr Dermatol , vol.22 , pp. 415-419
    • Steele, J.A.1    Hansen, H.2    Arn, P.3
  • 11
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    • P63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    • Van Bokhoven H, Hamel BC, Bamshad M, et al. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 2001; 69: 481-492.
    • (2001) Am J Hum Genet , vol.69 , pp. 481-492
    • Van Bokhoven, H.1    Hamel, B.C.2    Bamshad, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.