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Article

Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome.

The Journal of reproductive medicine - 1 Mar 2003

Lehner Rainer, Goharkhay Nima, Tringler Barbara, Fasching Claudia, Hengstschläger Markus

Abstract excerpt

OBJECTIVE: To determine the frequency of sporadic and familial cases of three classic phenotypes associated with Holt-Oran syndrome (HOS). STUDY DESIGN: We determined the frequency of sporadic and familial cases based on the 179 patients with HOS reported in the literature. RESULTS: Clinically, there are three variations of HOS: affected individuals may have only skeletal anomalies (27.4%), only cardiac defects...

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PMID: 12698771

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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.

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