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Article

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

American journal of human genetics - 1 Jul 2005

Schneider Katja U, Sabherwal Nitin, Jantz Karin, Röth Ralph, Muncke Nadja, Blum Werner F, Cutler Gordon B, Rappold Gudrun

Abstract excerpt

Human growth is influenced not only by environmental and internal factors but also by a large number of different genes. One of these genes, SHOX, is believed to play a major role in growth, since defects in this homeobox-containing gene on the sex chromosomes lead to syndromal short stature (Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and Turner syndrome) as well as to idiopathic short stature. We...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Homeodomain Proteins

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Share to Recombination, Genetic

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Source

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Identifiers

PMID: 15931595
DOI: 10.1086/431655
PMCID: PMC1226197

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 a major recombination hotspot in patients with short stature and SHOX deficiency.PMID 15931595Read ↗

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

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

The SHOX region and its mutations.Semantic proximity Read ↗

SHOX at a glance: from gene to protein.Semantic proximity Read ↗

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

SHOX in short stature syndromes.Semantic 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 ↗

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short StatureSemantic proximity Read ↗

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

SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis.Semantic proximity Read ↗

Epidemiology of SHOX deficiency.Semantic proximity Read ↗

Unexpected phenotype in a boy with trisomy of the SHOX gene.Semantic proximity Read ↗

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