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

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. OBJ...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526731/
https://www.ncbi.nlm.nih.gov/pubmed/32893856
http://dx.doi.org/10.1210/clinem/dgaa613

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