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Article

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

European journal of medical genetics - 1 Jan 2000

Barroso Eva, Benito-Sanz Sara, Belinchón Alberta, Yuste-Checa Patricia, Gracia Ricardo, Aragones Angel, Campos-Barros Angel, Heath Karen E

Abstract excerpt

Léri-Weill dyschondrosteosis (LWD, MIM 127300), is a dominantly inherited skeletal dysplasia with disproportionate short stature, mesomelic limb shortening, and the characteristic Madelung deformity. Two regions of the pseudoautosomal region 1 (PAR1) have been shown to be involved in LWD, SHOX (short-stature homeobox-containing gene) and the downstream enhancer region. We report our genetic findings of a young...

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Source

Identifiers

PMID: 20412871
DOI: 10.1016/j.ejmg.2010.04.003

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

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).PMID 20412871Read ↗

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

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

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.Semantic proximity Read ↗

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

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.Semantic proximity Read ↗

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.Semantic proximity Read ↗

The SHOX region and its mutations.Semantic proximity Read ↗

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.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 ↗

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.Semantic proximity Read ↗

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

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