Article
Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.
Acta diabetologica - 1 Sept 2011
Borowiec Maciej, Mysliwiec Malgorzata, Fendler Wojciech, Antosik Karolina, Brandt Agnieszka, Malecki Maciej, Mlynarski Wojciech
Abstract excerpt
Monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY) is usually characterized by a mild clinical phenotype. The clinical course of diabetes may be, however, highly variable. The authors present a child with diabetes manifesting with ketoacidosis during the neonatal period, born in a large family with ten members bearing a heterozygous p.Gly223Ser mutation in GCK. DNA sequencing and multiplex...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.