Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

Joshua D. Smith,A. Hing,C. Clarke,Nathan M. Johnson,Francisco A Perez,Sarah S. Park,J. Horst,B. Mecham,L. Maves,D. Nickerson,M. Cunningham

Published 2014 in American Journal of Human Genetics

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