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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. 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 ...
  3. 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 ...
  4. 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/ ...
  5. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... can be indicative of a syndrome (e.g., Bardet-Biedl syndrome and Joubert syndrome). With time, some individuals who ... see Table 2 in Joubert Syndrome, Clinical Characteristics ). Bardet-Biedl syndrome (BBS) is a multisystem ciliopathy primarily characterized by ...
  6. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 617 Hypothalamic Diseases C10.228.140.617.200 Bardet-Biedl Syndrome C10.228.140.617.477 Hypothalamic Neoplasms C10. ... 684.249 Alstrom Syndrome C11.270.684.624 Bardet-Biedl Syndrome C11.270.862 Retinoblastoma C11.270.881 Walker- ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome</url><title >Bardet-Biedl syndrome</title><other_names >< ...
  8. Cohen Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1482
    ... analysis ) identifies alterations in about 90% of individuals. Bardet-Biedl syndrome (BBS) is characterized by cone-rod retinal dystrophy, ... renal dysfunction. The visual prognosis for children with Bardet-Biedl syndrome is poor: night blindness is usually evident by ...
  9. Autosomal Recessive Polycystic Kidney Disease – PKHD1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1326
    ... 25 BBS-related genes incl: BBS10 CEP290 14 Bardet-Biedl syndrome AR Primary criteria: retinal degeneration (cone-rod dystrophy), ... recessive ; ARPKD = autosomal recessive polycystic kidney disease; BBS = Bardet-Biedl syndrome; CHF = congenital hepatic fibrosis; CKD = chronic kidney disease; ...
  10. Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1417
    ... and are often syndromic ; examples include Alström syndrome , Bardet-Biedl syndrome , the neuronal ceroid lipofuscinoses, and Joubert syndrome and ... 20:2759-2777. Epub 2022 May 30. Review Bardet-Biedl Syndrome Overview. [GeneReviews(®). 1993] Review Bardet-Biedl Syndrome Overview. ...
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