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Results 1 - 5 of 5 for "Bardet-Biedl" syndrome 8
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  1. 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 ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. McKusick-Kaufman syndrome 
    ... Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet. 1999 Aug;36(8):599-603. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  3. BBS1 gene 
    ... of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15. ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  4. BBS10 gene 
    ... CA, Sheffield VC, Maher ER. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur J Hum Genet. 2007 Feb;15(2):173-8. doi: 10.1038/sj.ejhg.5201736. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  5. 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