Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

by Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuck, Simon K. Law, Lorena Magraner-Pardo, Tirso Pons, Roman Polishchuck, Nicola Brunetti-Pierri
Published 2019-12-01