Article
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
The Journal of investigative dermatology - 1 Dec 1999
Whittock N V, Ashton G H, Dopping-Hepenstal P J, Gratian M J, Keane F M, Eady R A, McGrath J A
Abstract excerpt
Recently, the first example of a human mutation in the gene encoding the desmosomal plaque protein, desmoplakin, has been described in a patient with autosomal dominant striate palmoplantar kerato-derma. We now report a further case of a desmoplakin mutation in a proband with striate palmoplantar keratoderma that also results in a null allele and haploinsufficiency. The mutation was a heterozygous G > A...
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