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Article

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.

Journal of medical genetics - 1 Mar 2003

Fan C, Duhagon M A, Oberti C, Chen S, Hiroi Y, Komuro I, Duhagon P I, Canessa R, Wang Q

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Source

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Identifiers

PMID: 12624158
DOI: 10.1136/jmg.40.3.e29
PMCID: PMC1618877

Genes

TBX5

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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Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.PMID 12624158Read ↗

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Current advances in Holt-Oram syndrome.Semantic proximity Read ↗

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.Semantic proximity Read ↗

Holt-Oram syndrome.Semantic proximity Read ↗

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.Semantic proximity Read ↗

Novel TBX5 mutations in patients with Holt-Oram syndrome.Semantic proximity Read ↗

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.Semantic proximity Read ↗

Molecular characterization of a deep intronic TBX5 variant in a familial case of Holt-Oram syndromeSemantic proximity Read ↗

Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome.Semantic proximity Read ↗

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