Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome

Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome

Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We investigated a Chinese family with clinical features suggestive of HOS. Clinical examinations revealed that both the proband and his father ha...

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Bibliographic Details
Main Authors: Xia Li, Weizhe Shi, Xuejiao Ding, Jingchun Li, Yiqiang Li, Jianping Wu, Zhe Yuan, Tianying Nong, Hongwen Xu, Mingwei Zhu
Format: Article
Language:English
Published: Elsevier 2022-11-01
Series:Heliyon
Subjects:
Holt–Oram syndrome
Common atrium
Whole exome sequencing
TBX5
Novel mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844022030626

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