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20 results
  1. ... Arima syndrome (retinopathy, cystic dysplastic kidneys) [ Dekaban 1969 ] Senior-Løken syndrome (SLS; retinopathy and juvenile-onset nephronophthisis) [ Løken et ...
  2. ... and Bardet-Biedl syndrome [ Huber & Cormier-Daire 2012 ]. Senior-Løken syndrome (OMIM 266900 ) is a heterogeneous autosomal recessive disorder ... and WDR19 have been detected in persons with Senior-Løken syndrome. (Note: Pathogenic variants in WDR19 are also associated ...
  3. ... referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and ...
  4. ... atypical. CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8 TRAF3IP1 WDR19 Senior-Løken syndrome (SLS) (OMIM PS266900 ) AR Retinal degeneration Kidney disease ... syndrome Leber congenital amaurosis Meckel syndrome (OMIM 611134 ) Senior-Løken syndrome (OMIM 610189 ) See footnote 10. IFT27 (BBS19) <1% ...
  5. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/senior-loken-syndrome</url><title >Senior-Løken syndrome</title><other_names >< ...
  6. ... be associated with Meckel-Gruber syndrome (OMIM PS249000 ). Senior-Løken syndrome (SLS). The main features of (SLS) are NPH ...
  7. ... CEP290- associated LCA) as part of syndromes including Senior-Loken syndrome and Joubert syndrome (see Table 2 ). Early molecular ...
  8. ... included in the spectrum of JSRD, which encompasses Senior-Løken syndrome (retinopathy and juvenile-onset nephronophthisis) and Dekaban-Arima ...
  9. ... tubular dysgenesis: MedlinePlus Genetics (National Library of Medicine) Senior-Løken syndrome: MedlinePlus Genetics (National Library of Medicine) Townes-Brocks ...
  10. ... Retinitis pigmentosa: MedlinePlus Genetics (National Library of Medicine) Senior-Løken syndrome: MedlinePlus Genetics (National Library of Medicine) Stargardt macular ...
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