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Article

Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.

Journal of medical genetics - 1 Sept 2001

Boucher C A, Sargent C A, Ogata T, Affara N A

Abstract excerpt

BACKGROUND: Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene have been shown to...

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Share to Chromosome Breakage
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Dosage Compensation, Genetic

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Source

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Identifiers

PMID: 11546827
DOI: 10.1136/jmg.38.9.591
PMCID: PMC1734929

Genes

SHOX

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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Research trail→

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Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.PMID 11546827Read ↗

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Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocationSemantic proximity Read ↗

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The role of the SHOX gene in the pathophysiology of Turner syndrome.Semantic proximity Read ↗

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