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

DEMİRBİLEK, HÜSEYİN; Cayir, Atilla; Flanagan, Sarah; Yildirim, Ruken; Kor, Yilmaz; GÜRBÜZ, FATİH; Haliloglu, Belma; Yildiz, Melek; Baran, Riza; Akbas, Emine; Demiral, Meliha; Unal, Edip; Arslan, Gulcin; VURALLI KARAOĞLAN, DOĞUŞ; Buyukyilmaz, Gonul; Al-Khawaga, Sara; Saeed, Amira; Al Maadheed, Maryam; Khalifa, Amel; Onal, Hasan; YÜKSEL, BİLGİN; Ozbek, Mehmet; Bereket, Abdullah; Hattersley, Andrew; Hussain, Khalid; De Franco, Elisa

doi:10.1210/clinem/dgaa613

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

DEMİRBİLEK H., Cayir A., Flanagan S. E., Yildirim R., Kor Y., GÜRBÜZ F., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.105, sa.12, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 105 Sayı: 12
Basım Tarihi: 2020
Doi Numarası: 10.1210/clinem/dgaa613
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & 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
Çukurova 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.