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Results 1 - 3 of 3 for "Bardet-Biedl" syndrome 1
  1. ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov BARDET-BIEDL SYNDROME 1; BBS1 PubMed Ansley SJ, Badano JL, Blacque OE, ... on PubMed Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. doi: 10. ...
  2. ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 ...
  3. ... overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. However, Bardet-Biedl syndrome has several features that are not typically seen ...