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  1. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... Search term GeneReviews Advanced Search Help < Prev Next > Bardet-Biedl Syndrome Overview RaeLynn Forsyth , MD and Meral Gunay-Aygun , ... with Bardet-Biedl syndrome. 1. Clinical Characteristics of Bardet-Biedl Syndrome Bardet-Biedl syndrome (BBS) is a multisystem non- ...
  2. Bardet-Biedl syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome
    ... studies. Learn more about the genes associated with Bardet-Biedl syndrome BBS1 BBS10 CEP290 MKKS Additional Information from NCBI ...
  3. BBS1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bbs1
    ... and smell). Health Conditions Related to Genetic Changes Bardet-Biedl syndrome More than 30 mutations in the BBS1 gene have been identified in people with Bardet-Biedl syndrome. Mutations in this gene are the most common ...
  4. BBS10 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bbs10
    ... and smell). Health Conditions Related to Genetic Changes Bardet-Biedl syndrome More than 35 mutations in the BBS10 gene have been found to cause Bardet-Biedl syndrome. Mutations in this gene account for about 20 ...
  5. MKKS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mkks
    ... during early development. More About This Health Condition Bardet-Biedl syndrome MedlinePlus Genetics provides information about Bardet-Biedl syndrome ...
  6. McKusick-Kaufman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1502
    ... Scott et al. 2017 ]. Genetically Related (Allelic) Disorders Bardet-Biedl syndrome (BBS). A substantial and prognostically significant clinical overlap ... affected individuals [ Goyal et al 2020 ]. Differential Diagnosis Bardet-Biedl syndrome (BBS) is a multisystem non-motile ciliopathy primarily ...
  7. CEP290 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cep290
    ... Leber congenital amaurosis. More About This Health Condition Bardet-Biedl syndrome MedlinePlus Genetics provides information about Bardet-Biedl syndrome ...
  8. MedlinePlus Drug Information: Setmelanotide Injection 
    https://medlineplus.gov/druginfo/meds/a622059.html
    ... deficiency (inherited conditions that cause severe obesity) or Bardet-Biedl syndrome (BBS; an inherited condition that can cause severe ... benefit from using this medication. If you have Bardet-Biedl syndrome and you do not lose a certain amount ...
  9. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Bardet-Biedl syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  10. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... JS, suggesting an association with the ciliary disorder Bardet-Biedl syndrome ; the identification of biallelic pathogenic variants in INPP5E ... syndrome; NPHP = nephronophthisis; LCA = Leber congenital amaurosis; BBS = ... MORM = mental retardation, truncal obesity, retinal dystrophy, micropenis [ ...
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