Zhuang-Zhuang Yuan Xiao-Hui Xie Heng Gu Wei-Zhi Zhang Yi-Qiao Hu Yi-Feng Yang Zhi-Ping Tan
10.3389/fcvm.2021.708033
Front Cardiovasc Med
2021 Aug 13;8:708033.
actl6a baf-opathies ssridds craniofacial dysmorphisms heart-hand syndromes intellectual disability
CC BY
https://pubmed.ncbi.nlm.nih.gov/34485408/
Case Reports
PMC8414571
34485408
Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome
2021