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

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