Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

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Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.

Mutations in genes encoding for desmosomal components are associated with a broad spectrum of phenotypes comprising skin and hair abnormalities and account for 45-50% of cases of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 dominant and recessive desmoplakin (DSP) gene mutations have been reported to be associated with skin, hair and/or heart defects. Here we report on ...

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ژورنال

عنوان ژورنال: Journal of Investigative Dermatology

سال: 2002

ISSN: 0022-202X

DOI: 10.1046/j.0022-202x.2001.01664.x