Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.

Demirbilek, HÜSEYİN; Cayir, A; Flanagan, SE; Yıldırım, R; Kor, Y; Gurbuz, F; Haliloğlu, B; Yıldız, M; Baran, RT; Akbas, ED; Demiral, M; Ünal, E; Arslan, G; Vuralli, D; Buyukyilmaz, G; Al-Khawaga, S; Saeed, A; Al, Maadheed; Khalifa, A; Onal, H; Yuksel, B; Ozbek, MN; Bereket, A; Hattersley, AT; Hussain, K; De, Franco

doi:10.1210/clinem/dgaa613

Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.

Demirbilek H., Cayir A., Flanagan S., Yıldırım R., Kor Y., Gurbuz F., ...More

The Journal of clinical endocrinology and metabolism, vol.105, 2020 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 105
Publication Date: 2020
Doi Number: 10.1210/clinem/dgaa613
Journal Name: The Journal of clinical endocrinology and metabolism
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, Chemical Abstracts Core, CINAHL, EMBASE, Food Science & Technology Abstracts, Gender Studies Database, MEDLINE, Veterinary Science Database
Keywords: PTF1A gene, permanent, neonatal diabetes, pancreas agenesis/hypoplasia, cholestasis, PANCREATIC AGENESIS, HEAD CIRCUMFERENCE, MELLITUS, WEIGHT
Open Archive Collection: AVESIS Open Access Collection
Hacettepe University Affiliated: Yes

Abstract

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.