Searchable abstracts of presentations at key conferences in endocrinology

ea0032p621 | Growth hormome IGF axis – basic | ECE2013

Delay stature and shox gene molecular abnormalities: about 4 families

Fedala Nora Soumeya , Mehdi Haddam Ali El , Chentli Farida , Haddad Meriem , Akkache Lyna

Introduction: These last years have seen emerger identification of a large number of genes responsible of bone disease. La dyschondrosteosis: Leri weill is more important to know. It include short stature due to moderate micromelia mesomelic associated with a very characteristic deformity of the wrist: the Madelung deformity. This pathology is caused by haploinsufficiency of the SHOX gene, a gene essential in regulating the growth and remodeling of skeletal. We report observat...