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

Tarih
2009
Yazar
Attanasio, M.
Wise, E. L.
Wolf, M. T. F.
Utsch, B.
Becker, C.
Nuernberg, G.
Nuernberg, P.
Saunier, S.
Antignac, C.
Hildebrandt, F.
Nayir, A.
Otto, E. A.
Tory, K.
Zhou, W.
Chaki, M.
Paruchuri, Y.
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/34238
https://doi.org/10.1136/jmg.2009.066613
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