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Results 1 - 3 of 3 for Joubert syndrome with renal defect
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  1. Joubert syndrome 
    ... and smell.Mutations in the genes associated with Joubert syndrome lead to problems with the structure and function of primary cilia. Defects in these cell structures can disrupt important chemical ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. NPHP1 gene 
    ... associated ciliopathies, although it remains unclear how these defects lead to the specific ... JBTS4 juvenile nephronophthisis 1 protein nephrocystin-1 ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  3. Patient support and advocacy groups 
    ... Jain Foundation Jeffrey Modell Foundation Joshua Frase Foundation Joubert Syndrome and Related Disorders Foundation Kabuki Syndrome Foundation Kabuki ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -