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Results 1 - 5 of 5 for "Bardet-Biedl" syndrome 2
Did you mean "barrett-Biedl" syndrome 2?
  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. 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
  3. 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
  4. 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
  5. 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