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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cardiomyopathy
Comorbidity C0002170|alopecia
Sentences 2
PubMedID- 21929534 Recent desmosomal genodermatoses described include lethal congenital epidermolysis bullosa (plakoglobin), cardiomyopathy with alopecia and palmoplantar keratoderma (plakoglobin), hypotrichosis with scalp vesicles (desmocollin 3), and generalized peeling skin disease (corneodesmosin).
PubMedID- 21668431 cardiomyopathy with alopecia and palmoplantar keratoderma (capk) is caused by a jup mutation.

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