Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

Summary Inherited desmosomal cardiocutaneous syndromes are characterized by the quartet of woolly hair, palmoplantar keratoderma (PPK), skin fragility and cardiac abnormalities, which are caused by mutations in genes coding for desmosomal proteins. We describe a previously unrecognized autosomal rec...

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Veröffentlicht in:	British journal of dermatology (1951) 2011-10, Vol.165 (4), p.917-921
Hauptverfasser:	Erken, H., Yariz, K.O., Duman, D., Kaya, C.T., Sayin, T., Heper, A.O., Tekin, M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alopecia Alopecia - genetics Baldness Biological and medical sciences Cardiology. Vascular system Cardiomyopathies - genetics Cardiomyopathy Catenin Dermatology Desmoplakins - genetics Dyskeratosis gamma Catenin Hair and nails disorders Heart Heterozygote Humans Keratoderma, Palmoplantar - genetics Male Medical sciences Middle Aged Mutation Mutation, Missense - genetics Myocarditis. Cardiomyopathies Palmoplantar keratoderma Phenotypes Ventricle
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