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

G, Binder; A, Renz; A, Martinez; A, Keselman; V, Hesse; SW, Riedl; G, Häusler; S, Fricke-Otto; H, Frisch; JJ, Heinrich; MB, Ranke

doi:10.1210/jc.2004-0591

Public

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

Shared by NobleBlocks on Sep 1, 2004 • 12:00 AM UTC

Authors:

Binder G

Renz A

Martinez A

Abstract

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 growt...

Discussions