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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מידע ביבליוגרפי
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.
פורמט: Artigo
שפה:Inglês
יצא לאור: The American Society of Human Genetics 2002
נושאים:
Articles
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC384990/
https://ncbi.nlm.nih.gov/pubmed/12016587
תגים: הוספת תג
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