Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.

Sinéad M McGlacken-ByrneJasmina Kallefullah MohammadNiamh ConlonDiliara GubaevaJulie SiersbækAnders Jørgen SchouHuseyin DemirbilekAntonia DastamaniJayne A L HoughtonKlaus BrusgaardMaria MelikyanHenrik Boye Thybo ChristesenSarah E FlanaganNuala P MurphyPrateek Shanmugananda

Published in: European journal of endocrinology (2022)

We build on the knowledge of the natural history and pancreatic and extra-pancreatic phenotypes of HNF4A/HNF1Amutations and illustrate the heterogeneity of this condition.

Keyphrases

nuclear factor
single cell
type diabetes
healthcare
intensive care unit
clinical trial
toll like receptor
genome wide
cross sectional
randomized controlled trial
immune response
inflammatory response
double blind