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Results 1 - 8 of 8 for "Bardet-Biedl" syndrome 2
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  1. BBS10 gene 
    ... H. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  2. Bardet-Biedl syndrome 
    ... 37. doi: 10.1172/JCI37041. Epub 2009 Mar 2. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  3. BBS1 gene 
    ... Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet. 2003 Feb;72(2):429-37. doi: 10.1086/346172. Epub 2003 ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  4. MKKS gene 
    ... 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 2001 Jun;28(2):193. Citation on PubMed Slavotinek AM. McKusick-Kaufman ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  5. McKusick-Kaufman syndrome 
    ... these features are not apparent at birth, the two conditions can be difficult to tell apart in infancy and early childhood.Both McKusick-Kaufman syndrome and Bardet-Biedl syndrome belong to a group of conditions called ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  6. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  7. 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
  8. 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