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Article

High incidence of SHOX anomalies in individuals with short stature.

Journal of medical genetics - 1 Sept 2006

Huber C, Rosilio M, Munnich A, Cormier-Daire V

Abstract excerpt

OBJECTIVE: To study the SHOX gene and the PAR1 region in individuals with short stature. METHODS: The study involved 56 cases of dyschondrosteosis and 84 cases of idiopathic short stature (ISS). The study was designed to determine the following: the prevalence of SHOX anomalies in ISS; the frequency of Madelung deformity in individuals with SHOX anomalies; and the value of a family history of short stature in...

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Source

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Identifiers

PMID: 16597678
DOI: 10.1136/jmg.2006.040998
PMCID: PMC2564573

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.

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