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Results 1 - 6 of 6 for "Bardet-Biedl" syndrome 13
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  1. Bardet-Biedl syndrome 
    ... Bedouin population of Kuwait, affecting about 1 in 13,500 newborns. Bardet-Biedl syndrome can result from mutations in at least 14 ... on PubMed Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. doi: 10.1093/ ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  2. MKKS gene 
    ... variants in the MKKS gene can also cause Bardet-Biedl syndrome, a condition that is related to McKusick-Kaufman ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition BBS6 HMCS KMS ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  3. 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
  4. McKusick-Kaufman syndrome 
    ... overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. However, Bardet-Biedl syndrome has several features that are not typically seen ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  5. 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
  6. 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