hrp0092p1-207 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019
Demirbilek Huseyin
, Cayir Atilla
, DeFranco Elisa
, Kor Yilmaz
, Yildiz Melek
, Yildirim Ruken
, Baran Riza Taner
, Demiral Meliha
, Haliloglu Belma
, Flanagan Sarah E
, Ellard Sian
, Hussain Khalid
, Ozbek Mehmet Nuri
Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...