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"Bardet-Biedl" syndrome 9
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- ... body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. 2003 Oct 9;425(6958):628-33. doi: 10.1038/nature02030. ... WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian ... doi: 10.1126/science.1063525. Citation on PubMed ...
- ... 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 2002 May 9. Citation on PubMed Slavotinek AM, Stone EM, Mykytyn ...
- ... 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 2008 Mar 9. Erratum In: Nat Genet. 2008 Jul;40(7): ...
- ... 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/s00439-010-0804-9. Epub 2010 Feb 23. Citation on PubMed or ...
- ... 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/s00439-010-0804-9. Epub 2010 Feb 23. Citation on PubMed or ...
- Bardet-Biedl Syndrome (Foundation Fighting Blindness)What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the complex disorder Bardet Biedl Syndrome, as well as how to live with the ...
- 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 ...
- ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa ( ...
- ... UK Autoinflammatory Alliance Avery's Angels Axenfeld-Rieger Association Bardet Biedl Syndrome Family Association Barth Syndrome Foundation Batten Disease Family ...
- ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94( ...