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Article

Identification of new mutations in the TBX<i>5</i> gene in patients with Holt-Oram syndrome

14 Feb 2005

Abstract excerpt

Holt-Oram syndrome (HOS) (MIM 142900), first described by Holt and Oram in 1960, is characterised by malformations of the upper limbs involving mainly the pre-axial ray and variable cardiac defects, most of them septation defects. This autosomal dominant inherited condition occurs in approximately 1 in 100 000 live births and shows high penetrative and variable intrafamilial and interfamilial clinical...

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PMID: 15710732
DOI: 10.1136/hrt.2004.036855

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