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Article

[Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jun 2011

Llano-Rivas I, Fernández-Toral J, Navarro-Vera I

Abstract excerpt

INTRODUCTION: A mesomelic dysplasia with shortened limbs was first described by Leri and Weill in 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. PATIENTS AND METHODS: One of the observations is familial and the other is an isolated case. The diagnosis in both cases was...

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Source

Identifiers

PMID: 21397576
DOI: 10.1016/j.anpedi.2011.01.005

Genes

SHOX

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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