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Article

Genotypes and phenotypes of children with SHOX deficiency in France.

The Journal of clinical endocrinology and metabolism - 1 Jul 2012

Rosilio Myriam, Huber-Lequesne Céline, Sapin Hélène, Carel Jean-Claude, Blum Werner F, Cormier-Daire Valérie

Abstract excerpt

CONTEXT: The prevalence of SHOX deficiency in children with short stature (SS) is variable in the literature and various genotypes have been identified. OBJECTIVES: The aim of our study was to determine the frequency and distribution of SHOX genotypes in a large sample of children with SS in France. DESIGN, SETTING, AND PATIENTS: Children were enrolled in 38 French pediatric endocrinology centers and were either...

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Source

Identifiers

PMID: 22518848
DOI: 10.1210/jc.2011-3460

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Genotypes and phenotypes of children with SHOX deficiency in France.PMID 22518848Read ↗

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