Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites

Barth syndrome (BTHS) is a rare X-linked recessive genetic disease, which appears in infancy with myocardial and skeletal muscle diseases, neutropenia, growth retardation, and other clinical features. TAFAZZIN is the pathogenic gene of BTHS, which encodes the tafazzin protein of the inner membrane o...

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Detalles Bibliográficos
Autores principales: Zhao, Xuliang, Li, Xu, Sun, Weiwei, Jia, Jian-an, Yu, Min, Tian, Ruixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682154/
https://www.ncbi.nlm.nih.gov/pubmed/36440345
http://dx.doi.org/10.3389/fped.2022.1004485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682154/
https://www.ncbi.nlm.nih.gov/pubmed/36440345
http://dx.doi.org/10.3389/fped.2022.1004485

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