Publication
Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN
)
Jennifer A. Wambach, Georg M. Stettner, Tobias B. Haack, Karin Writzl, Andreja Škofljanec, Aleš Maver, Francina Munell, Stephan Ossowski, Mattia Bosio, Daniel J. Wegner, Marwan Shinawi, Dustin Baldridge, Bader Alhaddad, Tim M. Strom, Dorothy K. Grange, Ekkehard Wilichowski, Robin Troxell, James Collins, Barbara B. Warner, Robert E. Schmidt, Alan Pestronk, F. Sessions Cole, Robert Steinfeld
Human Mutation, August 2017, Wiley
DOI: 10.1002/humu.23297