Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome

Purpose: This study aims to identify genetic lesions in patients with congenital heart disease (CHD) with or without other phenotypes. In this study, over 400 patients were recruited and several novel variants in known causative genes were identified. A Chinese patient clinically diagnosed with HHS...

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Detalles Bibliográficos
Autores principales: Yuan, Zhuang-Zhuang, Xie, Xiao-Hui, Gu, Heng, Zhang, Wei-Zhi, Hu, Yi-Qiao, Yang, Yi-Feng, Tan, Zhi-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414571/
https://www.ncbi.nlm.nih.gov/pubmed/34485408
http://dx.doi.org/10.3389/fcvm.2021.708033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414571/
https://www.ncbi.nlm.nih.gov/pubmed/34485408
http://dx.doi.org/10.3389/fcvm.2021.708033

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