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Results 1 - 6 of 6 for Nephronophthisis 15
  1. Nephronophthisis 
    ... Genetic Testing Registry: Nephronophthisis 14 Genetic Testing Registry: Nephronophthisis 15 Genetic Testing Registry: Nephronophthisis 16 Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  2. NPHP1 gene 
    ... a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres.2012.07.003. Epub 2012 Jul 20. Citation on PubMed or Free article on PubMed Central ... in familial juvenile nephronophthisis. Am J Hum Genet. 2000 Mar;66(3): ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  3. Mainzer-Saldino syndrome 
    ... femur. Am 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
  4. Joubert syndrome 
    ... 21; JBTS21 JOUBERT SYNDROME 24; JBTS24 JOUBERT SYNDROME 15; JBTS15 JOUBERT SYNDROME 16; JBTS16 ... PubMed Brancati ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  5. WDR19 gene 
    ... of other problems, including a kidney condition called nephronophthisis and eye abnormalities.The WDR19 gene mutations involved ... This Health Condition MedlinePlus Genetics provides information about Nephronophthisis More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  6. Cranioectodermal dysplasia 
    ... in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and ... Cranioectodermal Dysplasia. 2013 Sep 12 [updated 2022 Dec 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics