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

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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Bibliographic Details
Main Authors: Zhuang-Zhuang Yuan, Xiao-Hui Xie, Heng Gu, Wei-Zhi Zhang, Yi-Qiao Hu, Yi-Feng Yang, Zhi-Ping Tan
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
heart-hand syndromes
BAF-opathies
SSRIDDs
Actl6a
craniofacial dysmorphisms
intellectual disability
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2021.708033/full

Internet

https://www.frontiersin.org/articles/10.3389/fcvm.2021.708033/full

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