Proc Natl Acad Sci U S A. 2008 Apr 28 [Epub ahead of print]
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet-Biedl syndrome.
Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL.
In this publication, the authors combine data from facial dysmorphology modeling, with experiments in mice and zebrafish to demonstrate their hypothesis that the proteins mutated in Bardet-Biedl syndrome are involved in neural crest cell migration.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator