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Article

Current advances in Holt-Oram syndrome.

Current opinion in pediatrics - 1 Dec 2002

Huang Taosheng

Abstract excerpt

Holt-Oram syndrome is an autosomal-dominant condition characterized by congenital cardiac and forelimb anomalies. It is caused by mutations of the TBX5 gene, a member of the T-box family that encodes a transcription factor. Molecular studies have demonstrated that mutations predicted to create null alleles cause substantial abnormalities in both the limbs and heart, and that missense mutations of TBX5 can produce...

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Share to Genetic Counseling
Share to Heart Defects, Congenital
Share to Limb Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Models, Molecular

Share to Mutation, Missense

Share to Polymorphism, Single-Stranded Conformational

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Share to T-Box Domain Proteins

Source

Identifiers

PMID: 12436037
DOI: 10.1097/00008480-200212000-00008

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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Current advances in Holt-Oram syndrome.PMID 12436037Read ↗

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.Semantic proximity Read ↗

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Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.Semantic proximity Read ↗

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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 ↗

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