Article
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 6 May 2008
Tobin Jonathan L, Di Franco Matt, Eichers Erica, May-Simera Helen, Garcia Monica, Yan Jiong, Quinlan Robyn, Justice Monica J, Hennekam Raoul C, Briscoe James, Tada Masazumi, Mayor Roberto, Burns Alan J, Lupski James R, Hammond Peter, Beales Philip L
Abstract excerpt
Facial recognition is central to the diagnosis of many syndromes, and craniofacial patterns may reflect common etiologies. In the pleiotropic Bardet-Biedl syndrome (BBS), a primary ciliopathy with intraflagellar transport dysfunction, patients have a characteristic facial "gestalt" that dysmorphologists have found difficult to characterize. Here, we use dense surface modeling (DSM) to reveal that BBS patients and...
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