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21 results
  1. Senior-Løken syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome
    ... SYNDROME 6; SLSN6 SENIOR-LOKEN SYNDROME 5; SLSN5 SENIOR-LOKEN SYNDROME 7; SLSN7 Scientific Articles on PubMed PubMed References Caridi G, Murer L, Bellantuono R, Sorino P, ...
  2. NPHP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nphp1
    ... mutations develop the additional signs and symptoms of Senior-Løken syndrome or Joubert syndrome. Other Names for ... References Fliegauf M, Horvath J, von Schnakenburg C, Olbrich ...
  3. CEP290 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cep290
    ... about Meckel syndrome More About This Health Condition Senior-Løken syndrome MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition Other disorders Several ...
  4. WDR19 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/wdr19
    ... about Retinitis pigmentosa More About This Health Condition Senior-Løken syndrome MedlinePlus Genetics provides information about Senior-Løken syndrome ...
  5. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... Arima syndrome (retinopathy, cystic dysplastic kidneys) [ Dekaban 1969 ] Senior-Løken syndrome (SLS; retinopathy and juvenile-onset nephronophthisis) [ Løken et ...
  6. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... 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 ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/senior-loken-syndrome</url><title >Senior-Løken syndrome</title><other_names >< ...
  8. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... 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% ...
  9. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... be associated with Meckel-Gruber syndrome (OMIM PS249000 ). Senior-Løken syndrome (SLS). The main features of (SLS) are NPH ... Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Gunay-Aygun M, Gahl WA, Heller T. ... 1993] Review Joubert Syndrome. Parisi M, Glass ...
  10. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... CEP290- associated LCA) as part of syndromes including Senior-Loken syndrome and Joubert syndrome (see Table 2 ). Early molecular ...
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