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Results 1 - 4 of 4 for Joubert syndrome 11
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  1. NPHP1 gene 
    ... is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul;75(1):82-91. doi: 10.1086/421846. Epub 2004 May 11. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  2. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. OFD1 gene 
    ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, ... and breathing problems. The OFD1 mutations responsible for Joubert syndrome lead to the production of an abnormally short ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  4. KIF7 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition ACLS AGBK EQYK340 ... Schermer B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics