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Article

[Holt-Oram syndrome: study of 7 cases].

Medicina clinica - 13 Nov 2010

Martínez-García Mónica, Lorda-Sanchez Isabel, García-Hoyos Maria, Ramos Carmen, Ayuso Carmen, Trujillo-Tiebas María José

Abstract excerpt

UNLABELLED: FUNDAMENTAL AND OBJECTIVE: Holt-Oram syndrome (HOS) is a heart-hand disease with an autosomal dominant inheritance pattern. About 85% of the affected patients present de novo mutations in the TBX5 gene. The aim of this study is to propose a molecular strategy to diagnose patients with clinical suspicion of HOS. PATIENTS AND METHODS: A sequence analysis of 7 patients from exon 2 to exon 8 of the TBX5...

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Source

Identifiers

PMID: 21070912
DOI: 10.1016/j.medcli.2010.04.013

Genes

TBX5
GLI3

Variants

Provenance

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.

Related research

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[Holt-Oram syndrome: study of 7 cases].PMID 21070912Read ↗

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Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsSemantic proximity Read ↗

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