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Article

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

Nature genetics - 1 May 1998

Shears D J, Vassal H J, Goodman F R, Palmer R W, Reardon W, Superti-Furga A, Scambler P J, Winter R M

Abstract excerpt

Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic limb shortening. Expression is variable and consistently more severe in females, who frequently display the Madelung deformity...

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Identifiers

PMID: 9590293
DOI: 10.1038/ng0198-70

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9590293-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.PMID 9590293Read ↗

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

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).Semantic proximity Read ↗

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

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.Semantic proximity Read ↗

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).Semantic proximity Read ↗

The SHOX region and its mutations.Semantic proximity Read ↗

Phenotypes Associated with SHOX Deficiency.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 ↗

Phenotypes Associated with SHOX DeficiencySemantic proximity Read ↗

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site VariantSemantic 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 ↗

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