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Results 1 - 5 of 5 for "Bardet-Biedl" syndrome 7
  1. ... article on PubMed Central Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007-0435- ...
  2. ... MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet. 2002 Jun;110(6):561-7. doi: 10.1007/s00439-002-0733-3. Epub ...
  3. ... mutations in syndromic encephalocele genes are associated with Bardet-Biedl ... (CEP290). Exp Eye Res. 2011 May;92(5):316-7. doi: 10.1016/j.exer.2010.05.009. ...
  4. ... overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. However, Bardet-Biedl syndrome has several features that are not typically seen ...
  5. ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa ( ...