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Nephronophthisis 4
- ... Genetic Testing Registry: Nephronophthisis 3 Genetic Testing Registry: Nephronophthisis 4 Genetic Testing Registry: Nephronophthisis 7 Genetic Testing Registry: ...
- ... SENIOR-LOKEN SYNDROME 3; SLSN3 SENIOR-LOKEN SYNDROME 4; SLSN4 SENIOR-LOKEN SYNDROME 6; SLSN6 ... association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 ...
- ... 9; JBTS9 JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 ... Brancati ...
- ... in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and ... caused by mutations in one of at least four genes: the WDR35, IFT122, WDR19, or IFT43 gene. ...
- ... A, Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac ... IFT140 mutations. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j. ...