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Results 1 - 3 of 3 for Nephronophthisis 20
  1. Joubert syndrome 
    ... JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 14; JBTS14 PubMed Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Citation ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. Mainzer-Saldino syndrome 
    ... J Med 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 ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  3. Senior-Løken syndrome 
    ... of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in the ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics