<i>SHOX</i> mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability

Abstract

Patients with SHOX mutations present a broad phenotypic variability. SHOX mutations are very frequent in LWD (89%), in opposition to ISS (3.2%) in our cohort. The use of SH/H SDS as a selection criterion increases the frequency of SHOX mutation detection to 22% and should be used for selecting ISS children to undergo SHOX mutation molecular studies.