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Results 1 - 10 of 11 for "Bardet-Biedl" syndrome 4
  1. ... mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub ...
  2. ... deficiency (inherited conditions that cause severe obesity) or Bardet-Biedl syndrome (BBS; an inherited condition that can cause severe obesity). Setmelanotide is in a class of medications called melanocortin 4 (MC4) receptor agonists. It works by activating pathways ...
  3. ... of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 ...
  4. ... body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. ... C Semin Med Genet. 2009 Nov 15;151C(4):281-95. doi: 10.1002/ajmg.c.30231. ...
  5. 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 ...
  6. ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and ... in the United States and Europe. ...
  7. ... doi: 10.1073/pnas.0910268107. Epub 2010 Jan 4. Citation on PubMed or Free article on PubMed Central Slavotinek AM, Biesecker LG. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. Am J Med Genet. ...
  8. ... variants in the MKKS gene can also cause Bardet-Biedl syndrome, a condition that is related to McKusick-Kaufman ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition BBS6 HMCS KMS ...
  9. ... the BBS10 gene have been found to cause Bardet-Biedl syndrome. Mutations in this gene account for about 20 ... BBS10 gene lead to the specific features of Bardet-Biedl syndrome. A malfunctioning BBS10 protein appears to affect the ...
  10. 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 ...
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