Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)

BACKGROUND: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, o...

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Detalles Bibliográficos
Autores principales: Finsterer, Josef, Stöllberger, Claudia, Wollmann, Eva, Dertinger, Susanne, Laccone, Franco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471549/
https://www.ncbi.nlm.nih.gov/pubmed/28649555
http://dx.doi.org/10.1016/j.ymgmr.2016.05.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471549/
https://www.ncbi.nlm.nih.gov/pubmed/28649555
http://dx.doi.org/10.1016/j.ymgmr.2016.05.005

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