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Results 1 - 6 of 6 for "Senior-Loken" syndrome 9
  1. ... mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196. Citation on PubMed ...
  2. ... SYNDROME 5; JBTS5 JOUBERT SYNDROME 6; JBTS6 JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME 4; ... Citation on PubMed Parisi M, Glass I. Joubert Syndrome. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman ...
  3. ... This Health Condition MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition Mutations in the ... such conditions are known as nephronophthisis-associated ciliopathies. Senior-Løken syndrome is characterized by the combination of nephronophthisis and ...
  4. ... This Health Condition MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition Several dozen variants ... body systems and include Joubert syndrome, Meckel syndrome, Senior-Løken syndrome, and Bardet-Biedl syndrome (mentioned above). The features ...
  5. ... referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and ...
  6. ... aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior-Løken syndrome, Gorlin-Chaudhry-Moss syndrome, Down syndrome, and fragile ...