Article
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
PloS one - 1 Jan 2013
Proverbio Maria Carla, Mangano Eleonora, Gessi Alessandra, Bordoni Roberta, Spinelli Roberta, Asselta Rosanna, Valin Paola Sogno, Di Candia Stefania, Zamproni Ilaria, Diceglie Cecilia, Mora Stefano, Caruso-Nicoletti Manuela, Salvatoni Alessandro, De Bellis Gianluca, Battaglia Cristina
Abstract excerpt
Congenital hyperinsulinism of infancy (CHI) is a rare disorder characterized by severe hypoglycemia due to inappropriate insulin secretion. The genetic causes of CHI have been found in genes regulating insulin secretion from pancreatic β-cells; recessive inactivating mutations in the ABCC8 and KCNJ11 genes represent the most common events. Despite the advances in understanding the molecular pathogenesis of CHI,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.