Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS loci have been mapped, and seven genes have been identified. BBS3 was previ...

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Main Authors: Chiang, Annie P., Nishimura, Darryl, Searby, Charles, Elbedour, Khalil, Carmi, Rivka, Ferguson, Amanda L., Secrist, Jenifer, Braun, Terry, Casavant, Thomas, Stone, Edwin M., Sheffield, Val C.
פורמט: Artigo
שפה:Inglês
יצא לאור: The American Society of Human Genetics 2004
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Articles
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182025/
https://ncbi.nlm.nih.gov/pubmed/15258860
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