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Results 1 - 10 of 10 for "Bardet-Biedl" syndrome 1
Did you mean "board-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. Setmelanotide Injection 
    ... including proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency (inherited conditions that cause severe obesity) or Bardet-Biedl syndrome (BBS; an inherited condition that can cause severe ...
    https://medlineplus.gov/druginfo/meds/a622059.html - Drugs and Supplements
  5. 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
  6. 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
  7. Patient support and advocacy groups 
    ... Foundation of America APS Support UK APS Type 1 Foundation ARPKD/CHF Alliance Arrhythmia Alliance (UK) Arrhythmogenic Right Ventricular ... Alliance Avery's Angels Axenfeld-Rieger Association Bardet Biedl Syndrome Family Association Barth Syndrome Foundation Batten Disease Family ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  8. 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
  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. Kidney Diseases (National Library of Medicine)  
    You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about ...
    https://medlineplus.gov/kidneydiseases.html - Health Topics