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

Date
2009
Author
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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Abstract
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.
URI
http://hdl.handle.net/20.500.12627/34238
https://doi.org/10.1136/jmg.2009.066613
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