Three cases of Wolfram syndrome with different clinical aspects

Camtosun, Emine; ŞIKLAR, ZEYNEP; Kocaay, Pinar; Ceylaner, Serdar; Flanagan, Sarah; Ellard, Sian; BERBEROĞLU, MERİH

doi:10.1515/jpem-2014-0139

Three cases of Wolfram syndrome with different clinical aspects

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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, sa.3-4, ss.433-438, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 28 Sayı: 3-4
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
Ankara Üniversitesi Adresli: Evet

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.