Article

Molecular characterization of a deep intronic TBX5 variant in a familial case of Holt-Oram syndrome

2026-08-20

Abstract excerpt

<title>Abstract</title> <p> Background Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by congenital heart defects and upper-limb malformations, most commonly caused by pathogenic variants in <italic>TBX5</italic> . To date, only approximately 200 variants in <italic>TBX5</italic> have been described in association with HOS and congenital heart disease. Among the reported varian...

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Literature Corpus work: 77c08dce-789c-5723-8755-7bd78c5934e2
DOI: 10.21203/rs.3.rs-10525809/v1

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