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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Xuechen Liu, Lei Yang, Jian Cui, Mengqian Liao, Zonghui Hou, Mengqi Zhao, Lianyi Wang
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2026-03-01
Цуврал:	Journal of Cardiothoracic Surgery
Нөхцлүүд:	Holt-Oram syndrome Congenital heart disease Upper limb malformations TBX5 gene
Онлайн хандалт:	https://doi.org/10.1186/s13019-026-03913-4
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!