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Results 1 - 10 of 16 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)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Birth Defects/Specifics ... Birth Defects ... What is Bardet Biedl Syndrome? Learn about the signs and symptoms of 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)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
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