Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of endocrinology"
DOI: 10.1530/eje-21-0897
Abstract: Objective The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). Design We characterised an international multi-centre paediatric cohort of patients with HNF4A or… read more here.
Keywords: hnf4a hnf1a; clinical genetic; hnf1a mutations; paediatric cohort ... See more keywords
HNF1A Mutations and Beta Cell Dysfunction in Diabetes
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23063222
Abstract: Understanding the genetic factors of diabetes is essential for addressing the global increase in type 2 diabetes. HNF1A mutations cause a monogenic form of diabetes called maturity-onset diabetes of the young (MODY), and HNF1A single-nucleotide… read more here.
Keywords: cell; hnf1a mutations; beta cell; cell dysfunction ... See more keywords