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...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2022-11-01
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Series: | Heliyon |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844022030626 |