Development of end-stage renal disease at a young age in two cases with Joubert syndrome

Soenmez F., Guezuenler-Sen M., YILMAZ D., CÖMERTPAY G., Heise M., Cirak S., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.56, sa.4, ss.458-461, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 4
  • Basım Tarihi: 2014
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.458-461
  • Çukurova Üniversitesi Adresli: Hayır

Özet

Joubert syndrome (JS) is an autosomal recessive genetic disorder. To date, mutations in 20 genes of the genetically heterogeneous JS and JS-related disorders (JSRD) have been reported. Renal involvement occurs in 2-20% of JS cases. Identified renal abnormalities are cystic dysplasia and nephronophthisis.