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Article

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

American journal of medical genetics. Part A - 1 Apr 2016

Bunyan David J, Baffico Maria, Capone Lucia, Vannelli Silvia, Iughetti Lorenzo, Schmitt Sébastien, Taylor Emma-Jane, Herridge Adam A, Shears Deborah, Forabosco Antonino, Coviello Domenico A

Abstract excerpt

Leri-Weill dyschondrosteosis is a pseudoautosomal dominantly-inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, point mutations, or partial duplications of the gene, or to heterozygous deletions upstream or downstream of the intact SHOX gene involving conserved non-coding cis-regulatory DNA elements that show enhancer activity. Recently, two SHOX conserved non-coding...

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Source

Identifiers

PMID: 26698168
DOI: 10.1002/ajmg.a.37524

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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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.PMID 26698168Read ↗

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

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri-Weill Dyschondrosteosis.Semantic proximity Read ↗

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype CohortsSemantic proximity Read ↗

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.Semantic proximity Read ↗

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.Semantic proximity Read ↗

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

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.Semantic proximity Read ↗

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

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