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Article

The SHOX region and its mutations.

Journal of endocrinological investigation - 1 Jun 2010

Capone L, Iughetti L, Sabatini S, Bacciaglia A, Forabosco A

Abstract excerpt

The short stature homeobox-containing (SHOX) gene lies in the pseudoautosomal region 1 (PAR1) that comprises 2.6 Mb of the short-arm tips of both the X and Y chromosomes. It is known that its heterozygous mutations cause Leri-Weill dyschondrosteosis (LWD) (OMIM #127300), while its homozygous mutations cause a severe form of dwarfism known as Langer mesomelic dysplasia (LMD) (OMIM #249700). The analysis of 238 LWD...

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Source

Identifiers

PMID: 21057179

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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The SHOX region and its mutations.PMID 21057179Read ↗

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Clinical impact of variants in non-coding regions of SHOX - Current knowledge.Semantic proximity Read ↗

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.Semantic proximity Read ↗

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

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

Epidemiology of SHOX deficiency.Semantic proximity Read ↗

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Semantic proximity Read ↗

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.Semantic proximity Read ↗

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