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Article

Holt-Oram syndrome.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie - 1 Jan 2007

Lichiardopol Corina, Militaru C, Popescu B, Hila G, Mixich F

Abstract excerpt

The Holt-Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene (12q24.1), affecting one in 100 000 live births. 60% of cases are familial and 40% sporadic. We present the case of a 24 years old male patient with a personal history of bilateral coxa vara surgically corrected on the right at the age of 8...

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Source

Identifiers

PMID: 17502954

Genes

TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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