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Article

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.

Hormone research in paediatrics - 1 Feb 2011

Binder Gerhard

Abstract excerpt

SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term 'SHOX' were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2-15% of individuals with formerly...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21325865
DOI: 10.1159/000324105

Genes

SHOX
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.PMID 21325865Read ↗

Short stature and dysmorphology associated with defects in the SHOX gene.Semantic proximity Read ↗

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

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

SHOX in short stature syndromes.Semantic proximity Read ↗

Epidemiology of SHOX deficiency.Semantic proximity Read ↗

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

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.Semantic proximity Read ↗

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

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

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

SHOX mutation as a rare disease: molecular diagnosis and growth hormone treatment supported by the Italian public health system.Semantic proximity Read ↗

SHOX deficiency in short Taiwanese children: A single-center experience.Semantic proximity Read ↗

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