Three cases of Wolfram syndrome with different clinical aspects

Camtosun E., ŞIKLAR Z., Kocaay P., Ceylaner S., Flanagan S. E., Ellard S., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.28, no.3-4, pp.433-438, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 3-4
  • Publication Date: 2015
  • Doi Number: 10.1515/jpem-2014-0139
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.433-438
  • Keywords: clinic, mutation, Wolfram syndrome, DIDMOAD-SYNDROME
  • Ankara University Affiliated: Yes

Abstract

Background: Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations.