HNF4A
MIM.600281 20q12-q13.1
Pathology
germline mutations in
- type I maturity-onset diabetes of the young (MIM.125850)
- noninsulin-dependent diabetes mellitus (NIDDM) (MIM.125853)
- HNF4A-associated congenital hyperinsulinism (HNF4A-CHI) (#19566570#)
References
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. Conn JJ, Simm PJ, Oats JJ, Nankervis AJ, Jacobs SE, Ellard S, Hattersley AT. Aust N Z J Obstet Gynaecol. 2009 Jun;49(3):328-30. PMID: #19566570#