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Naxos disease
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- ... form of the condition is also known as Naxos disease. It is characterized by thick, calloused skin on ... ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun 17;355(9221):2119-24. ...
- ... Bouvagnet P. A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. J Dent ... desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms. Clin Genet. 2013 Jul;84(1):20- ...