ISSN:1308-5727 E-ISSN:1308-5735

Original Article

Identification of Three Novel and One Known Mutation in the Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis
  • Maha Sherif
  • Hüseyin Demirbilek
  • Atilla Çayır
  • Sophia Tahir
  • Büşra Çavdarlı
  • Meliha Demiral
  • Ayşe Nurcan Cebeci
  • Doğuş Vurallı
  • Sofia Asim Rahman
  • Edip Unal
  • Gönül Büyükyılmaz
  • Riza Taner Baran
  • Mehmet Nuri Özbek
  • Khalid Hussain
J Clin Res Pediatr Endocrinol 2021; 13: 34-43 DOI: 10.4274/jcrpe.galenos.2020.2020.0152 PMID:32938580
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Case Report

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)
  • Gamze Çelmeli
  • Doga Türkkahraman
  • Yusuf Çürek
  • Jayne Houghton
  • Sema Akçurin
  • Iffet Bircan
J Clin Res Pediatr Endocrinol 2017; 9: 80-84 DOI: 10.4274/jcrpe.2894 PMID:27468121
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Case Report

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
  • Dagmar Prochazkova
  • Zuzana Hruba
  • Petra Konecna
  • Jarmila Skotakova
  • Lenka Fajkusova
J Clin Res Pediatr Endocrinol 2016; 8: 482-483 DOI: 10.4274/jcrpe.3021 PMID:27217304
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Latest Update: 13.04.2021
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