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Article

SHOX at a glance: from gene to protein.

Archives of physiology and biochemistry - 1 Jun 2007

Marchini Antonio, Rappold Gudrun, Schneider Katja U

Abstract excerpt

The Short Stature Homeobox-containing Gene SHOX was identified as the genetic cause of the short stature phenotype in patients with Turner Syndrome and in certain patients with idiopathic short stature. Shortly after, SHOX mutations were also associated with the growth failure and skeletal deformities seen in patients with Léri - Weill dyschondrosteosis and Langer mesomelic dysplasia. Today it is estimated that...

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Identifiers

PMID: 17922307
DOI: 10.1080/13813450701531201

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

Semantic proximity does not establish scientific evidence.

Research trail→

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SHOX at a glance: from gene to protein.PMID 17922307Read ↗

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SHOX in short stature syndromes.Semantic proximity Read ↗

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

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

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.Semantic proximity Read ↗

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

The role of the SHOX gene in the pathophysiology of Turner syndrome.Semantic proximity Read ↗

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].Semantic proximity Read ↗

<i>SHOX</i> haploinsufficiency and overdosage: impact of gonadal function statusSemantic proximity Read ↗

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review.Semantic proximity Read ↗

Epidemiology of SHOX deficiency.Semantic proximity Read ↗

A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development.Semantic proximity Read ↗

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