BMPER mutation in Diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing

by Vincent A. Funari, Deborah Krakow, Lisette Nevarez, Zugen Chen, Tara L. Funari, Nithiwat Vatanavicharn, William R. Wilcox, David L. Rimoin, Stanley F. Nelson, Daniel H. Cohn
Published 2018