Associated Papers
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Scheidecker S et al.
American Journal of Ophthalmology, 2015
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE et al.
Nature Genetics, 2011
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
Imhoff O et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
Seo S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
Stoetzel C et al.
American Journal of Human Genetics, 2007
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