Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

Authors: Hilde Brems, Magdalena Chmara, Mourad Sahbatou, Ellen Denayer, Koji Taniguchi, Reiko Kato, Riet Somers, Ludwine Messiaen, Sofie De Schepper, Jean‐Pierre Fryns, Jan Cools, Peter Marynen, Gilles Thomas, Akihiko Yoshimura, Eric Legius - Nature Genetics 2007 cited by 473