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Results 1 - 6 of 6 for "Bardet-Biedl" syndrome 20
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  1. Bardet-Biedl syndrome 
    ... syndrome.About one-quarter of all cases of Bardet-Biedl syndrome result from mutations in the BBS1 gene. Another 20 percent of cases are caused by mutations in ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  2. BBS10 gene 
    ... the BBS10 gene have been found to cause Bardet-Biedl syndrome. Mutations in this gene account for about 20 percent of all cases of the disorder.Some ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  3. MKKS gene 
    ... chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci. 2005 Mar 1;118(Pt 5):1007-20. doi: 10.1242/jcs.01676. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  4. Retinitis pigmentosa 
    ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and ... nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - 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( ... Ronquillo CC, Bernstein PS, Baehr W. Senior-Loken syndrome: a syndromic form of ... Epub 2012 Jul 20. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics