| Title: |
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations. |
| Authors: |
Demirbilek, HÜSEYİN; De, Franco; Hussain, K; Hattersley, AT; Bereket, A; Ozbek, MN; Yuksel, B; Onal, H; Khalifa, A; Al, Maadheed; Saeed, A; Al-Khawaga, S; Buyukyilmaz, G; Vuralli, D; Arslan, G; Ünal, E; Demiral, M; Akbas, ED; Baran, RT; Yıldız, M; Haliloğlu, B; Gurbuz, F; Kor, Y; Yıldırım, R; Flanagan, SE; Cayir, A |
| Publication Year: |
2020 |
| Description: |
Context: Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations.Their clinical phenotype and disease progression have not been well characterized. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1210/clinem/dgaa613 |
| Availability: |
https://doi.org/10.1210/clinem/dgaa613; https://avesis.hacettepe.edu.tr/publication/details/8982a438-c2c4-4d99-b37e-de9791ef4d8e/oai |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.C585973D |
| Database: |
BASE |