Comparison of SHOX and associated elements duplications distribution between patients (Leri-Weill dyschondrosteosis/idiopathic short stature) and population sample

摘要

The effect of heterozygous duplications of SHOX and associated elements on Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) development is less distinct when compared to reciprocal deletions.