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Nephronophthisis 7
- ... Genetic Testing Registry: Nephronophthisis 4 Genetic Testing Registry: Nephronophthisis 7 Genetic Testing Registry: Nephronophthisis 9 Nephronophthisis National Organization ...
- ... Nurnberg P, Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. ...
- ... Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948. Citation on PubMed Mortellaro C, Bello L, Pucci A, Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac ...
- ... 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 JOUBERT SYNDROME 23; JBTS23 ... Brancati ...