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Article

New roles of SHOX as regulator of target genes.

Pediatric endocrinology reviews : PER - 1 May 2012

Rappold G A, Durand C, Decker E, Marchini A, Schneider K U

Abstract excerpt

The homeobox gene SHOX encodes a transcription factor which is important for normal limb development. Approximately 5 to 10% of short patients exhibit a mutation or deletion in either the SHOX gene or its downstream enhancer regions. In humans, SHOX deficiency has been associated with various short stature syndromes as well as non-syndromic idiopathic short stature. A common feature of these syndromes is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22946287

Genes

SHOX
FGFR3
SDS

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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New roles of SHOX as regulator of target genes.PMID 22946287Read ↗

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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 ↗

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

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 ↗

A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.Semantic proximity Read ↗

The SHOX gene: a new indication for GH treatment.Semantic proximity Read ↗

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