Ontology highlight
ABSTRACT:
SUBMITTER: Lucchetti L
PROVIDER: S-EPMC5902492 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Lucchetti Laura L Prontera Paolo P Mencarelli Amedea A Sallicandro Ester E Mencarelli Annalisa A Cofini Marta M Leonardi Alberto A Stangoni Gabriela G Penta Laura L Esposito Susanna S
Frontiers in endocrinology 20180410
Heterozygous mutations in the <i>SHOX</i> gene or in the upstream and downstream enhancer elements are associated with 2-22% of cases of idiopathic short stature (OMIM #300582) and with 60% of cases of Leri-Weill dyschondrosteosis (OMIM #127300) with which female subjects are generally more severely affected. Approximately 80-90% of <i>SHOX</i> pathogenic variants are deletions or duplications, and the remaining 10-20% are point mutations that primarily give rise to missense variants. The clinic ...[more]