A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review

Carvajal syndrome is a rare hereditary cardiocutaneous syndrome caused by the variants of the desmoplakin (DSP) gene. In this study, we report a patient of Carvajal syndrome with a novel homozygous missense variant of DSP gene. We diagnosed a 7-year-old female patient with Carvajal syndrome characte...

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Detalles Bibliográficos
Autores principales: Zhao, Xiu-Jie, Bai, Chun-Yu, Li, Xiao-Yan, Wang, Lei, Wang, Ren-Ping, Xia, Yue, Liu, Gang, Zhao, Hong-Liang, Xu, Hong-Zun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547600/
https://www.ncbi.nlm.nih.gov/pubmed/37799505
http://dx.doi.org/10.2147/CCID.S429030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547600/
https://www.ncbi.nlm.nih.gov/pubmed/37799505
http://dx.doi.org/10.2147/CCID.S429030

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