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Article

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Clinical endocrinology - 1 Jan 2007

Jorge Alexander A L, Souza Silvia C, Nishi Miriam Y, Billerbeck Ana E, Libório Débora C C, Kim Chong A, Arnhold Ivo J P, Mendonca Berenice B

Abstract excerpt

OBJECTIVE: The frequency of SHOX mutations in children with idiopathic short stature (ISS) has been found to be variable. We analysed the SHOX gene in children with ISS and Leri-Weill dyschondrosteosis (LWD) and evaluated the phenotypic variability in patients harbouring SHOX mutations. PATIENTS:...

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Source

Identifiers

PMID: 17201812
DOI: 10.1111/j.1365-2265.2006.02698.x

Genes

SHOX
SDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17201812-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.PMID 17201812Read ↗

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