cardiomyopathy—dilated—with woolly hair and keratoderma

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cardiomyopathy—dilated—with woolly hair and keratoderma2016-11-25T07:11:00+00:00

cardiomyopathy—dilated—with woolly hair and keratoderma

CARDIOLGY, DERMATOLOGY

Definition An autosomal recessive cardiocutaneous syndrome (OMIM:605676) characterised by generalised striate keratoderma especially of palmoplantar skin, woolly hair, and dilated left ventricular cardiomyopathy

Molecular pathology Defects of DSP, which encodes desmoplakin, an obligate component of functional desmosomes, cause cardiomyopathy—dilated—with woolly hair and keratoderma 

Synonyms Carvajal syndrome, palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair 

References http://www.uniprot.org/uniprot/Q03001

http://www.omim.org/entry/605676

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