Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study

Abstract Background Holt-Oram syndrome, also known as atrio-digital syndrome, is a rare autosomal dominant genetic disorder primarily characterized by upper limb malformations and congenital heart defects, associated with mutations in the TBX5 gene. Diagnosis is typically based on clinical presentat...

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Autors principals:	Xuechen Liu, Lei Yang, Jian Cui, Mengqian Liao, Zonghui Hou, Mengqi Zhao, Lianyi Wang
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2026-03-01
Col·lecció:	Journal of Cardiothoracic Surgery
Matèries:	Holt-Oram syndrome Congenital heart disease Upper limb malformations TBX5 gene
Accés en línia:	https://doi.org/10.1186/s13019-026-03913-4
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