Three cases of Wolfram syndrome with different clinical aspects

Camtosun E., Siklar Z., Kocaay P., Ceylaner S., Flanagan S. E., Ellard S., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, ss.433-438, 2015 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1515/jpem-2014-0139
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.433-438
  • Anahtar Kelimeler: clinic, mutation, Wolfram syndrome, DIDMOAD-SYNDROME
  • İnönü Üniversitesi Adresli: Hayır

Özet

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.