Article
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2015
Raaijmakers Anke, Corveleyn Anniek, Devriendt Koen, van Tienoven Theun Pieter, Allegaert Karel, Van Dyck Mieke, van den Heuvel Lambertus, Kuypers Dirk, Claes Kathleen, Mekahli Djalila, Levtchenko Elena
Abstract excerpt
BACKGROUND: Congenital anomalies of kidneys and urinary tract (CAKUT) are the most predominant developmental disorders comprising ∼20-30% of all anomalies identified in the prenatal period. Mutations in hepatocyte nuclear factor 1-beta (HNF-1β) involved in the development of kidneys, liver, pancreas and urogenital tract are currently the most frequent monogenetic cause of CAKUT found in 10-30% of patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.