残毁性掌跖角化病的致病基因的研究进展(2)
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特有伴随症状伴有听力丧失伴有鱼鳞病
发生频率相对更多见相对更少见
染色体定位13q11-q121q21
参 考 文 献
[1] Korge BP. Loricrin mutation in Vohwinkel’s keratoderma is unique to the variant with ichthyosis. Invest Dermatol, 1997,109(4):604-610.
[2] 殷鑫浈.掌跖角化病及其致病基因研究进展.国外医学皮肤性病学分册,2004,(1):29-31.
[3] Snoeckx, R. Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Hum Mutat,2005,26:60-61.
[4] Marie-Louise Bondson. Connexin 26 (GJB2) Mutations in Two Swedish Patients with Atypical Vohwinkel (Mutilating Keratoderma plus Deafness) and KID Syndrome Both Extensively Treated with Acitretin. Acta Derm Venereol,2006,86:503-5081.
[5] Brown CW. A novel GJB2 (connexin 26) mutation,F142L, in a patient with unusual mucocutaneous findings and deafness. J Invest Dermatol,2003,121:1221-1223.
[6] Maestrini E. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome. Nat Genet,1996,13:70-77.
[7] Rikkert L Snoeckx. Mutation Analysis of the GJB2 (Connexin 26) Gene in Egypt.Human Mutation,2005,online.
[8] B Drera. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. Clin Genet, 2008,73: 85-88.
[9] Armstrong DK. A novel insertional mutation in loricrin in Vohwinkel’s keratoderma. J Invest Dermatol 1998,111:702-4.
[10] O’Driscoll J. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol,2002,27:243-246.
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