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

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Demirbilek H., Cayir A., Flanagan S., Yıldırım R., Kor Y., Gurbuz F., ...More

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

  • Publication Type: Article / Article
  • Volume: 105
  • Publication Date: 2020
  • Doi Number: 10.1210/clinem/dgaa613
  • Journal Name: The Journal of clinical endocrinology and metabolism
  • Journal Indexes: 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
  • Keywords: PTF1A gene, permanent, neonatal diabetes, pancreas agenesis/hypoplasia, cholestasis, PANCREATIC AGENESIS, HEAD CIRCUMFERENCE, MELLITUS, WEIGHT
  • Hacettepe University Affiliated: Yes


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.