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Article

Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.

American journal of medical genetics - 5 Jun 2000

Yang J, Hu D, Xia J, Yang Y, Ying B, Hu J, Zhou X

Abstract excerpt

Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that comprises upper limb and cardiac defects. The gene responsible for HOS, TBX5, was isolated and many mutations have been identified in HOS patients. We analyzed 11 Chinese HOS patients (7 from three families and 4 sporadic cases) for...

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Source

Identifiers

PMID: 10842287
DOI: 10.1002/(sici)1096-8628(20000605)92:4<237::aid-ajmg2>3.0.co;2-g

Genes

TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10842287-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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