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Results 1 - 7 of 7 for "Bardet-Biedl" syndrome 6
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  1. 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- ... Sheffield VC, Biesecker LG. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. Erratum In: Nat Genet ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  2. Bardet-Biedl syndrome 
    ... Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999 Jun;36(6):437-46. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  3. BBS10 gene 
    ... JM, Mandel JL, Dollfus H. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1820-5. doi: 10.1073/pnas.0812518106. Epub ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  4. CEP290 gene 
    ... 10.1136/jmg.2007.052027. Epub 2007 Jul 6. Citation on PubMed or Free article on ... are associated with Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  5. BBS1 gene 
    ... BBS1 gene have been identified in people with Bardet-Biedl syndrome. Mutations in this gene are the most common cause of Bardet-Biedl syndrome, accounting for about one-quarter of all cases. ...
    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