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.

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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)

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
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.