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Carvajal syndrome is a cardiocutaneous syndrome characterized by dilated cardiomyopathy (DCM), woolly hair, and keratoderma (1). Here we present the case of two female siblings with Carvajal syndrome and a new homozygous frameshift mutation in desmoplakin (DSP).

A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome