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Results 1 - 8 of 8 for "Bardet-Biedl" syndrome 7
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  1. Bardet-Biedl syndrome 
    ... article on PubMed Central Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007-0435- ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  2. MKKS gene 
    ... MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet. 2002 Jun;110(6):561-7. doi: 10.1007/s00439-002-0733-3. Epub ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  3. CEP290 gene 
    ... mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. Erratum In: Nat Genet. 2008 Jul;40(7):927. Al-Fadhel, Majid [corrected to Alfadhel, Majid]. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  4. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  5. McKusick-Kaufman syndrome 
    ... overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. However, Bardet-Biedl syndrome has several features that are not typically seen ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  6. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  7. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
  8. Retinitis pigmentosa 
    ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa ( ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics