Article
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
The Journal of clinical endocrinology and metabolism - 1 Dec 2020
Demirbilek Huseyin, Cayir Atilla, Flanagan Sarah E, Yıldırım Ruken, Kor Yılmaz, Gurbuz Fatih, Haliloğlu Belma, Yıldız Melek, Baran Rıza Taner, Akbas Emine Demet, Demiral Meliha, Ünal Edip, Arslan Gulcin, Vuralli Dogus, Buyukyilmaz Gonul, Al-Khawaga Sara, Saeed Amira, Al Maadheed Maryam, Khalifa Amel, Onal Hasan, Yuksel Bilgin, Ozbek Mehmet Nuri, Bereket Abdullah, Hattersley Andrew T, Hussain Khalid, De Franco Elisa
Abstract excerpt
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. OBJECTIVE: To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A enhancer...
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