Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

by Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone
Published 2020-03-01