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Results 1 - 10 of 15 for "Bardet-Biedl" syndrome 3
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  1. Bardet-Biedl syndrome 
    ... Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Curr Opin Genet Dev. 2005 Jun;15(3):315-23. doi: 10.1016/j.gde.2005. ... PubMed Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl ... J Clin Invest. 2009 Mar;119(3):428-37. doi: 10.1172/JCI37041. Epub 2009 ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  2. BBS10 gene 
    ... H. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  3. MKKS gene 
    ... MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet. 2002 Jun;110(6):561-7. doi: 10.1007/s00439-002-0733-3. Epub 2002 May 9. Citation on PubMed Slavotinek ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  4. McKusick-Kaufman syndrome 
    ... LG. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. Am J Med Genet. 2000 Nov 27;95(3):208-15. Citation on PubMed Slavotinek AM. McKusick- ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  5. BBS1 gene 
    ... other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003 May;72(5):1187-99. doi: 10.1086/375178. Epub 2003 Apr 3. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  6. Retinitis pigmentosa 
    ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; ... of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 people in ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  7. Setmelanotide Injection 
    ... not lose a certain amount of weight after 3 to 4 months of treatment with setmelanotide injection, it is not likely that you will benefit from using this medication. If you have Bardet-Biedl syndrome and you do not lose a certain amount ...
    https://medlineplus.gov/druginfo/meds/a622059.html - Drugs and Supplements
  8. 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
  9. 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
  10. 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
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