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Results 1 - 10 of 12 for "Bardet-Biedl" syndrome 10
Did you mean "barrett-Biedl" syndrome 10?
  1. BBS10 gene 
    ... JM, Mandel JL, Dollfus H. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1820-5. doi: 10.1073/pnas. ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  2. MKKS gene 
    ... obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):67-70. doi: 10.1038/79201. Citation on PubMed Kim JC, Ou ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  3. Bardet-Biedl syndrome 
    ... body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. 2003 Oct 9;425(6958):628-33. doi: 10.1038/nature02030. Epub 2003 Sep 21. Citation on ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  4. 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 ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  5. CEP290 gene 
    ... mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. Erratum ...
    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(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  7. 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-Kaufman Syndrome. 2002 Sep 10 [updated 2020 Dec 3]. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  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. 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
  10. Retinitis pigmentosa 
    ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa ( ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
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