Article
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
Human genetics - 1 Sept 2006
Eichers Erica R, Abd-El-Barr Muhammad M, Paylor Richard, Lewis Richard Alan, Bi Weimin, Lin Xiaodi, Meehan Thomas P, Stockton David W, Wu Samuel M, Lindsay Elizabeth, Justice Monica J, Beales Philip L, Katsanis Nicholas, Lupski James R
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a rare oligogenic disorder exhibiting both clinical and genetic heterogeneity. Although the BBS phenotype is variable both between and within families, the syndrome is characterized by the hallmarks of developmental and learning difficulties, post-axial polydactylia, obesity, hypogenitalism, renal abnormalities, retinal dystrophy, and several less frequently observed features....
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