Article
The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network.
Kidney international - 1 May 2010
Gerner Martin, Haribaskar Ramachandran, Pütz Michael, Czerwitzki Jacqueline, Walz Gerd, Schäfer Tobias
Abstract excerpt
Nephronophthisis is a heterogenetic autosomal recessive disorder associated with multiple developmental abnormalities, including cystic kidney disease and retinal degeneration. Retinal dystrophies, in particular the X-linked forms, are believed to represent a distinct group of hereditary diseases...
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