Case Report: Compound heterozygous variants in BHLHA9 cause complex syndactyly with oligodactyly, renal artery variation, and facial scar

Case Report: Compound heterozygous variants in BHLHA9 cause complex syndactyly with oligodactyly, renal artery variation, and facial scar

BackgroundThe BHLHA9 gene, a member of the basic helix-loop-helix (bHLH) family of transcription factors, plays a critical role in limb development. Mutations in BHLHA9 have been associated with various limb malformations, including syndactyly and split-hand/foot malformation. This study aimed to id...

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Main Authors: Weidong Wei, Xiaosha Wang, Tao Zhang, Yongxing Zhong, Jintang Zhang, Hua Yuan, Xiaoliang Shi, Yao He, Haitao Pan, Zhen Yang, Yuejuan Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Pediatrics
Subjects:
compound heterozygosity
complex syndactyly
limb development
exome sequencing
BHLHA9
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1611387/full
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