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Article

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

Nature genetics - 1 May 1998

Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V

Abstract excerpt

Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia with deformity of the forearm (Madelung deformity; ref. 3). Based on the observation of XY translocations (p22,q12; refs 4-6) in DCS patients, we tested the pseudoautosomal region in eight families with DCS and showed linkage of the DCS gene to a microsatellite DNA marker at the DXYS233 locus (Zmax=6.26 at theta=0). The short stature...

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Source

Identifiers

PMID: 9590292
DOI: 10.1038/ng0198-67

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).PMID 9590292Read ↗

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.Semantic proximity Read ↗

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

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.Semantic proximity Read ↗

Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.Semantic proximity Read ↗

Phenotypes Associated with SHOX Deficiency.Semantic proximity Read ↗

Phenotypes Associated with SHOX DeficiencySemantic proximity Read ↗

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.Semantic proximity Read ↗

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).Semantic proximity Read ↗

The SHOX region and its mutations.Semantic proximity Read ↗

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Semantic proximity Read ↗

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.Semantic proximity Read ↗

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.Semantic proximity Read ↗

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