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, ss.458-461, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 56 Konu: 4
  • Basım Tarihi: 2014
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.458-461

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.