Enhancer deletions of the <i>SHOX</i> gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

Abstract

The authors conclude that enhancer deletions in the SHOX gene region are a relatively frequent cause of growth failure in patients with idiopathic short stature and Leri-Weill syndrome. The data highlights the growing recognition that regulatory sequences are of crucial importance in the genome when diagnosing and understanding the aetiology of disease.