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Results 1 - 7 of 7 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. 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
  7. NPHP1 gene 
    ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94( ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics