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Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.
Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E. Keren H, et al. Arch Dermatol. 2005 May;141(5):625-8. doi: 10.1001/archderm.141.5.625. Arch Dermatol. 2005. PMID: 15897387
BACKGROUND: Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata. OBSERVATIONS: We describe a family affected with a diffuse nonstriated form of palmoplantar kerato …
BACKGROUND: Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant k …
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ. Coonar AS, et al. Circulation. 1998 May 26;97(20):2049-58. doi: 10.1161/01.cir.97.20.2049. Circulation. 1998. PMID: 9610536
We undertook a clinical and genetic investigation of Naxos disease, originally described by Protonotarios in 1986. This disease constitutes the triad of ARVC, diffuse nonepidermolytic palmoplantar keratoderma, and woolly hair. ...Linkage analysis was p …
We undertook a clinical and genetic investigation of Naxos disease, originally described by Protonotarios in 1986. This disease constitutes …