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

Hüseyin Demirbilek | Zendy; Atilla Çayır | Zendy; Sarah E. Flanagan | Zendy; Ruken Yıldırım | Zendy; Yılmaz Kör | Zendy; Fatih Gürbüz | Zendy; Belma Haliloğlu | Zendy; Melek Yıldız | Zendy; Rıza Taner Baran | Zendy; Emine Demet Akbaş | Zendy; Meliha Demiral | Zendy; Edip Ünal | Zendy; Gülçin Arslan | Zendy; Doğuş Vurallı | Zendy; Gönül Büyükyılmaz | Zendy; Sara AlKhawaga | Zendy; Amira Saeed | Zendy; Maryam Al Maadheed | Zendy; Amel Khalifa | Zendy; Hasan Önal | Zendy; Bilgin Yüksel | Zendy; Mehmet Nuri Özbek | Zendy; Abdullah Bereket | Zendy; Andrew T. Hattersley | Zendy; Khalid Hussain | Zendy; Elisa De Franco | Zendy

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

Author(s) -

Hüseyin Demirbilek,

Atilla Çayır,

Sarah E. Flanagan,

Ruken Yıldırım,

Yılmaz Kör,

Fatih Gürbüz,

Belma Haliloğlu,

Melek Yıldız,

Rıza Taner Baran,

Emine Demet Akbaş,

Meliha Demiral,

Edip Ünal,

Gülçin Arslan,

Doğuş Vurallı,

Gönül Büyükyılmaz,

Sara AlKhawaga,

Amira Saeed,

Maryam Al Maadheed,

Amel Khalifa,

Hasan Önal,

Bilgin Yüksel,

Mehmet Nuri Özbek,

Abdullah Bereket,

Andrew T. Hattersley,

Khalid Hussain,

Elisa De Franco

Publication year - 2020

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/clinem/dgaa613

Subject(s) - medicine , diabetes mellitus , gastroenterology , pediatrics , endocrinology , glycated hemoglobin , type 2 diabetes

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.

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