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Results 1 - 10 of 11 for "Bardet-Biedl" syndrome 9
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  1. Bardet-Biedl syndrome 
    ... body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. 2003 Oct 9;425(6958):628-33. doi: 10.1038/nature02030. ... WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian ... doi: 10.1126/science.1063525. Citation on PubMed ...
    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 2002 May 9. Citation on PubMed Slavotinek AM, Stone EM, Mykytyn ...
    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): ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  4. BBS10 gene 
    ... H. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  5. BBS1 gene 
    ... H. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  6. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the complex disorder Bardet Biedl Syndrome, as well as how to live with the ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  7. 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
  8. 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
  9. 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
  10. Patient support and advocacy groups 
    ... UK Autoinflammatory Alliance Avery's Angels Axenfeld-Rieger Association Bardet Biedl Syndrome Family Association Barth Syndrome Foundation Batten Disease Family ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
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