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Results 1 - 7 of 7 for "Bardet-Biedl" syndrome 1
Did you mean "barrett-Biedl" syndrome 1?
  1. BBS1 gene 
    The BBS1 gene provides instructions for making a protein found in cells throughout the body. The BBS1 protein is part of a group (complex) of proteins that ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  2. Bardet-Biedl syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov BARDET-BIEDL SYNDROME 1; BBS1 PubMed Ansley SJ, Badano JL, Blacque OE, ... on PubMed Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. doi: 10. ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  3. 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 ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  4. 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. ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  5. Retinitis pigmentosa 
    ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  6. McKusick-Kaufman syndrome 
    ... overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. However, Bardet-Biedl syndrome has several features that are not typically seen ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  7. 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