Article
ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications.
Diabetes/metabolism research and reviews - 1 Nov 2021
Timmers Marijke, Dirinck Eveline, Lauwers Patrick, Wuyts Wim, De Block Christophe
Abstract excerpt
More than 1000 variants of the ATP-binding cassette transporter subfamily C member 8 (ABCC8) gene have been reported in neonatal diabetes mellitus. Up to now only 55 ABCC8 variants were associated with Maturity-Onset Diabetes of the Young 12 (MODY12). We present a c.3544C>T p.(Arg1182Trp) ABCC8 variant in a 35-year-old women who had pronounced microvascular diabetic complications and a charcot arthropathy...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
