Carvajal Syndrome- A Variant of Naxos Disease: A Case Report

Carvajal syndrome is a rare variant of Naxos disease, a recessive mutation of the desmoplakin gene characterized by presence of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy, mainly left ventricular involvement. The main clinical complication is progressive heart disease which may...

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Detalles Bibliográficos
Autores principales: Mandal, Krishna Deo, Shrestha, Pun Narayan, Ghimire, Anjila, Joshi, Prakash, Agrawal, Sumit, Shrestha, Prapti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the Nepal Medical Association 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9199993/
https://www.ncbi.nlm.nih.gov/pubmed/35210635
http://dx.doi.org/10.31729/jnma.7102

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9199993/
https://www.ncbi.nlm.nih.gov/pubmed/35210635
http://dx.doi.org/10.31729/jnma.7102

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