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Article

Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.

Hormone research in paediatrics - 1 Jan 2011

Salmon-Musial Anne-Sophie, Rosilio Myriam, David Michel, Huber Céline, Pichot Emmanuel, Cormier-Daire Valérie, Nicolino Marc

Abstract excerpt

AIMS: To describe genetic, clinical, anthropometric and radiological characteristics of 22 children with SHOX gene anomalies and familial short stature suggestive of Léri-Weill dyschondrosteosis. METHODS: Monocentric retrospective observational study. RESULTS: Six children (27%) presented with deletions located downstream of SHOX (mean height -1.4 ± 0.9 SDS) and 16 (68%) with either deletions encompassing SHOX,...

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Identifiers

PMID: 21912078
DOI: 10.1159/000329359

Genes

SHOX
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.

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Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.PMID 21912078Read ↗

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