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Results 1 - 8 of 8 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. 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