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Article

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.

American journal of medical genetics. Part A - 1 Jul 2009

Thomas N Simon, Harvey John F, Bunyan David J, Rankin Julia, Grigelioniene Giedre, Bruno Damien L, Tan Tiong Y, Tomkins Susan, Hastings Robert

Abstract excerpt

Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire SHOX gene but little flanking sequence and so will not...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19533800
DOI: 10.1002/ajmg.a.32914

Genes

SHOX

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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Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.PMID 19533800Read ↗

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The SHOX region and its mutations.Semantic proximity Read ↗

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Short stature due to SHOX deficiency: genotype, phenotype, and therapy.Semantic proximity Read ↗

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short StatureSemantic proximity Read ↗

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