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Results 1 - 3 of 3 for "Senior-Loken" syndrome 8
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  1. Senior-Løken syndrome 
    ... a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 2005 Mar;37(3):282-8. doi: 10.1038/ng1520. Epub 2005 Feb 20. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  2. Joubert syndrome 
    ... SYNDROME 6; JBTS6 JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 JOUBERT SYNDROME ... 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- ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  3. Nephronophthisis 
    ... referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics