PTH and Vitamin D are two major regulators of mineral metabolism. They play critical roles
in the maintenance of calcium and phosphate homeostasis as well as the development and …

Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear
factor 1β (HNF1B) represent the most common known monogenic cause of developmental …

Hepatocyte nuclear factor 1β (HNF1β)–associated disease is a recently recognized clinical
entity with a variable multisystem phenotype. Early reports described an association …

Aims/hypothesis MODY can be wrongly diagnosed as type 1 diabetes in children. We aimed
to find the prevalence of MODY in a nationwide population-based registry of childhood …

Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most
commonly identified genetic cause of renal malformations. HNF1B was first identified as a …

Abstract Purpose of Review We provide a review of monogenic diabetes in young children
and adolescents with a focus on recognition, management, and pharmacological treatment …

The 17q12 recurrent deletion syndrome is characterized by variable combinations of the
three following findings: structural or functional abnormalities of the kidney and urinary tract …

Case 36-2023: A 19-Year-Old Man with Diabetes and Kidney Cysts | New England Journal of
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …

Hepatocyte nuclear factor-1β (HNF-1β) is a DNA-binding transcription factor that is essential
for normal kidney development. Mutations of HNF1B in humans produce cystic kidney …

Hepatocyte nuclear factor 1 homeobox B (HNF1β) is an essential transcription factor for the
development and functioning of the kidney. Mutations in HNF1β cause autosomal dominant …