BiallelicPDX1(insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes

(2011) E. L. Edghill et al.   DIABETIC MEDICINE

GATA6 haploinsufficiency causes pancreatic agenesis in humans

(2011) Hana Lango Allen et al.   NATURE GENETICS

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

(2010) Emma L. Edghill et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency

(2009) M. Nicolino et al.   DIABETES

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

(2009) A. S. Slingerland et al.   DIABETOLOGIA

Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation

(2009) Inas H Thomas et al.   PEDIATRIC DIABETES