Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome

Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardio...

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Detalles Bibliográficos
Autores principales: Yoo, Tae Yeon, Kim, Mock Ryeon, Son, Jae Sung, Lee, Ran, Bae, Sun Hwan, Chung, Sochung, Kim, Kyo Sun, Seong, Moon-Woo, Park, Sung Sup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Echocardiography 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925393/
https://www.ncbi.nlm.nih.gov/pubmed/27358708
http://dx.doi.org/10.4250/jcu.2016.24.2.153

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