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Results 1 - 5 of 5 for Nephronophthisis 3
  1. Nephronophthisis 
    ... Genetic Testing Registry: Nephronophthisis 18 Genetic Testing Registry: Nephronophthisis 3 Genetic Testing Registry: Nephronophthisis 4 Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  2. NPHP1 gene 
    ... mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet. 2000 Mar;66(3):778-89. doi: 10.1086/302819. Citation on ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  3. Joubert syndrome 
    ... JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 ... cilium biology, and complex disease. Semin Pediatr Neurol. 2009 Sep;16(3):143-54. doi: 10.1016/j.spen.2009. ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  4. Senior-Løken syndrome 
    ... SENIOR-LOKEN SYNDROME 1; SLSN1 SENIOR-LOKEN SYNDROME 3; SLSN3 SENIOR-LOKEN SYNDROME 4; SLSN4 ... association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  5. Cranioectodermal dysplasia 
    ... in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and ... Cranioectodermal dysplasia 2 Genetic Testing Registry: Cranioectodermal dysplasia 3 Genetic Testing Registry: Cranioectodermal dysplasia 4 Cranioectodermal dysplasia ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics