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Article

Rare cardiac defect in Holt-Oram syndrome.

Cardiovascular journal of Africa - 12 Mar 2012

Sinha R, Nema C

Abstract excerpt

Holt-Oram syndrome is an autosomal dominant condition associated with skeletal malformations of the upper limbs, and congenital heart disease. Approximately 40% of cases represent new mutations. Defective development of the embryonic radial ray (e.g. aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms and...

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Identifiers

PMID: 22447508
DOI: 10.5830/CVJA-2011-017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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