Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach, Jennifer A; Stettner, Georg M; Haack, Tobias B; Writzl, Karin; Skofljanec, Andreja; Maver, Ales; Munell, Francina; Ossowski, Stephan; Bosio, Mattia; Wegner, Daniel J; Shinawi, Marwan; Baldridge, Dustin; Alhaddad, Bader; Strom, Tim M; Grange, Dorothy K; Wilichowski, Ekkehard; Troxell, Robin; Collins, James; Warner, Barbara B; Schmidt, Robert E; Pestronk, Alan; Cole, F Sessions; Steinfeld, Robert.
Hum Mutat; 38(11): 1477-1484, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28726266