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Article

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.

The Journal of clinical endocrinology and metabolism - 1 Sept 2004

Binder Gerhard, Renz Alexandra, Martinez Alicia, Keselman Ana, Hesse Volker, Riedl Stefan W, Häusler Gabriele, Fricke-Otto Susanne, Frisch Herwig, Heinrich Juan Jorge, Ranke Michael B

Abstract excerpt

SHOX mutations causing haploinsufficiency were reported in Leri-Weill dyschondrosteosis (LWD), which is characterized by mesomelic short stature and Madelung deformity of the wrists. The aim of this study was to determine the prevalence of SHOX mutations in LWD and to investigate the degree of growth failure in relation to mutation, sex, age of menarche, and wrist deformity. We studied 20 families with 24...

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Source

Identifiers

PMID: 15356038
DOI: 10.1210/jc.2004-0591

Genes

SHOX
SDS

Variants

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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