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Results 1 - 10 of 11 for "Bardet-Biedl" syndrome 5
Did you mean "barrett-Biedl" syndrome 5?
  1. BBS1 gene 
    ... other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003 May;72(5):1187-99. doi: 10.1086/375178. Epub 2003 ... H. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: ... disease. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804- ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  2. 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.ajhg.2014. ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  3. BBS10 gene 
    ... H. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804- ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  4. Bardet-Biedl syndrome 
    ... H. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804- ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  5. MKKS gene 
    ... chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci. 2005 Mar 1;118(Pt 5):1007-20. doi: 10.1242/jcs.01676. Citation ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  6. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  7. CEP290 gene 
    ... mutations in syndromic encephalocele genes are associated with Bardet-Biedl ... 290 (CEP290). Exp Eye Res. 2011 May;92(5):316-7. doi: 10.1016/j.exer.2010. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  8. Setmelanotide Injection 
    ... 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 ...
    https://medlineplus.gov/druginfo/meds/a622059.html - Drugs and Supplements
  9. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  10. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
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