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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...
Autores principales: | Mandal, Krishna Deo, Shrestha, Pun Narayan, Ghimire, Anjila, Joshi, Prakash, Agrawal, Sumit, Shrestha, Prapti |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Journal of the Nepal Medical Association
2022
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Materias: | |
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 |
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