Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS genes representing all known mapped loci have been id...

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Bibliografiset tiedot
Päätekijät: Nishimura, Darryl Y., Swiderski, Ruth E., Searby, Charles C., Berg, Erik M., Ferguson, Amanda L., Hennekam, Raoul, Merin, Saul, Weleber, Richard G., Biesecker, Leslie G., Stone, Edwin M., Sheffield, Val C.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The American Society of Human Genetics 2005
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Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1285160/
https://ncbi.nlm.nih.gov/pubmed/16380913
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