机译:SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
Genet & Rare Dis Res Div,IRCCS;
Inst Physiol,Univ Wurzburg;
Inst Human Genet,Univ Hosp MagdeburgAssistance Publ Hop Paris AP HP,Hop Robert DebreDept Pediat Genet,Hacettepe UnivIstanbul Kanuni Sultan Suleyman Training & Res Ho,Hlth Sci UnivBechir Hamza Childrens Hosp,Univ Tunis El ManarDipartimento Innovaz Nei Sistemi Biol Agroaliment,Univ TusciaConfocal Microscopy Core Facil,Osped Pediatr Bambino GesuMed Genet Div,Fdn IRCCS Casa Sollievo SofferenzaDept Human Genet,RadboudumcDept Immunol,Pasteur Inst TunisGenet Med,IRCCS Azienda Osped Univ BolognaMindich Child Hlth & Dev Inst,Icahn Sch Med Mt Sinai;
LEGIUS SYNDROME; MUTATIONS; RAS; GENE; KINASE; DOMAIN; PROTEINS; PATHWAY; NEUROFIBROMIN; MOUSE;