A case of MODY5-like manifestations without mutations or deletions in coding and minimal promoter regions of the HNF1B gene.
Sign Up to like & getrecommendations! Published in 2020 at "Endocrine journal"
DOI: 10.1507/endocrj.ej20-0038
Abstract: Pancreatic tail hypoplasia is a common manifestation of maturity onset diabetes of the young (MODY) 5 that can cause reno-genito-urinary malformations such as renal cysts and bicornuate uterus. A 69-year-old female was admitted to our… read more here.
Keywords: minimal promoter; coding minimal; promoter regions; regions hnf1b ... See more keywords
Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.615072
Abstract: The annular pancreas (AP) is a congenital anomaly of the pancreas that can cause acute abdominal pain and vomiting after birth. However, the genetic cause of AP is still unknown, and no study has reported… read more here.
Keywords: duplication; patients 17q12; 17q12 duplication; annular pancreas ... See more keywords