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Results 1 - 5 of 5 for "Bardet-Biedl" syndrome 14
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  1. Bardet-Biedl syndrome 
    ... Citation on PubMed Forsyth R, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman ...
    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. 2006 Nov;14(11):1195-203. doi: 10.1038/sj.ejhg. ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  3. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Foundation Fighting Blindness ... Usher Syndrome/Learn More ... Usher Syndrome ... Retinal Disorders/Specifics ... Retinal Disorders ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  4. Patient support and advocacy groups 
    ... UK Autoinflammatory 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 -
  5. NPHP1 gene 
    ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94( ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics