SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature

Abstract

SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), Turner syndrome, and disproportionate short stature (DSS). However, this gene has also been found to be mutated in cases of idiopathic short stature (ISS) with a 3-15% frequency. In this study, the multiplex ligation-dependent probe… (More)
DOI: 10.1002/mgg3.39

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