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...

Volledige beschrijving

Bibliografische gegevens

Hoofdauteurs:	Xuechen Liu, Lei Yang, Jian Cui, Mengqian Liao, Zonghui Hou, Mengqi Zhao, Lianyi Wang
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	BMC 2026-03-01
Reeks:	Journal of Cardiothoracic Surgery
Onderwerpen:	Holt-Oram syndrome Congenital heart disease Upper limb malformations TBX5 gene
Online toegang:	https://doi.org/10.1186/s13019-026-03913-4
Tags:	Voeg label toe Geen labels, Wees de eerste die dit record labelt!