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Volumn 156, Issue 4, 2007, Pages 777-779

A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: A new type of hidrotic ectodermal dysplasia? [17]

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 30; GENOMIC DNA; PROTEIN; PROTEIN GJB2; UNCLASSIFIED DRUG;

EID: 33947374422     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.07752.x     Document Type: Letter
Times cited : (11)

References (7)
  • 1
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    • A hereditary ectodermal dystrophy
    • Clouston HR. A hereditary ectodermal dystrophy. Can Med Assoc J 1929; 21:18-31.
    • (1929) Can Med Assoc J , vol.21 , pp. 18-31
    • Clouston, H.R.1
  • 2
    • 0342572603 scopus 로고    scopus 로고
    • Mutations in GJB6 cause hidrotic ectodermal dysplasia
    • Lamartine J, Essenfelder GM, Kibar Z et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000; 26:142-4.
    • (2000) Nat Genet , vol.26 , pp. 142-144
    • Lamartine, J.1    Essenfelder, G.M.2    Kibar, Z.3
  • 4
    • 0031722150 scopus 로고    scopus 로고
    • Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
    • Richard G, White TW, Smith LE et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998; 103:393-9.
    • (1998) Hum Genet , vol.103 , pp. 393-399
    • Richard, G.1    White, T.W.2    Smith, L.E.3
  • 5
    • 18344395853 scopus 로고
    • De novo mutation in the gene encoding connexin-26 (GJB-2) in a sporadic case of keratitisichthyosis-deafness (KID) syndrome
    • Richard G, Rouan F, Willoughby CE et al. De novo mutation in the gene encoding connexin-26 (GJB-2) in a sporadic case of keratitisichthyosis-deafness (KID) syndrome. Am J Hum Genet 1980; 70:1341-8.
    • (1980) Am J Hum Genet , vol.70 , pp. 1341-1348
    • Richard, G.1    Rouan, F.2    Willoughby, C.E.3
  • 6
    • 2442446948 scopus 로고    scopus 로고
    • Genetic heterogeneity of KID syndrome: Identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia
    • Jan AY, Amin S, Ratajczak P et al. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol 2004; 122:1108-13.
    • (2004) J Invest Dermatol , vol.122 , pp. 1108-1113
    • Jan, A.Y.1    Amin, S.2    Ratajczak, P.3
  • 7
    • 7444219941 scopus 로고    scopus 로고
    • Gap junction diseases of the skin
    • van Steensel MAM. Gap junction diseases of the skin. Am J Med Genet 2004; 131C:12-19.
    • (2004) Am J Med Genet , vol.131 C , pp. 12-19
    • van Steensel, M.A.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.