Novel mechanisms of Bardet-Biedl syndrome proteins: implications in blindness and congenital heart disease
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. Congenital heart defects are rare in BBS, and McKu...
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| Language: | English |
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University of Iowa
2017
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| Online Access: | https://ir.uiowa.edu/etd/5848 https://ir.uiowa.edu/cgi/viewcontent.cgi?article=7326&context=etd |