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., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.105, no.12, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 105 Issue: 12
  • Publication Date: 2020
  • Doi Number: 10.1210/clinem/dgaa613
  • Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & 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
  • Çukurova University Affiliated: Yes

Abstract

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.