Article
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.
Pediatric diabetes - 1 Nov 2015
Collardeau-Frachon Sophie, Vasiljevic Alexandre, Jouvet Anne, Bouvier Raymonde, Senée Valérie, Nicolino Marc
Abstract excerpt
BACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple bone dysplasia, hepatic dysfunction, and growth retardation. All clinical manifestations result from gene mutations encoding pancreatic endoplasmic reticulum eIF2 α kinase (PERK), an endoplasmic reticulum transmembrane...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.