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Results 1 - 9 of 9 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. CEP290 gene 
    ... mutations in syndromic encephalocele genes are associated with Bardet-Biedl ... May 20. No abstract available. Citation on PubMed Perrault I, ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  5. 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
  6. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the complex disorder Bardet Biedl Syndrome, as well as how to live with the ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  7. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  8. 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
  9. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links