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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Xuechen Liu, Lei Yang, Jian Cui, Mengqian Liao, Zonghui Hou, Mengqi Zhao, Lianyi Wang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2026-03-01
coleção:	Journal of Cardiothoracic Surgery
Assuntos:	Holt-Oram syndrome Congenital heart disease Upper limb malformations TBX5 gene
Acesso em linha:	https://doi.org/10.1186/s13019-026-03913-4
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!