Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

Otto E. A., Tory K., Attanasio M., Zhou W., Chaki M., Paruchuri Y., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.46, sa.10, ss.663-670, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 46 Sayı: 10
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1136/jmg.2009.066613
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.663-670
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis.