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., ...Daha Fazla

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

Yayın Türü: Makale / Tam Makale
Cilt numarası: 105
Basım Tarihi: 2020
Doi Numarası: 10.1210/clinem/dgaa613
Dergi Adı: The Journal of clinical endocrinology and metabolism
Derginin Tarandığı İndeksler: 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
Anahtar Kelimeler: PTF1A gene, permanent, neonatal diabetes, pancreas agenesis/hypoplasia, cholestasis, PANCREATIC AGENESIS, HEAD CIRCUMFERENCE, MELLITUS, WEIGHT
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

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.