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Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
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- Published on: 15 May 2007
- Published on: 15 May 2007Anthropometric evaluation of children with SHOX mutationsShow More
Dear Editor
In their recent article, Rappold et al. (1) investigated the presence of SHOX defects in a large cohort of 1,608 short stature children, and found 58% of SHOX mutations/deletions in 55 children with Leri-Weill dyschondrosteosis (LWD) and 2.2% in 1,534 cases considered to have idiopathic short stature. The authors created an evidence-based scoring system based on clinical grounds obtained from the 68 patien...
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