BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction. BBS has been modeled historically as an autosomal recessive trait, under which premise six independent BBS loci (BBS1–BBS6) have been mapped in...

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Main Authors: Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.
格式: Artigo
語言:Inglês
出版: The American Society of Human Genetics 2002
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC384990/
https://ncbi.nlm.nih.gov/pubmed/12016587
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