Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s...Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s revised diagnostic criteria,affected individuals can be clinically classified as classic or atypical RTT(Neul et al.,2010).展开更多
基金supported by the Victorian Government’s Operational Infrastructure Support ProgramResearch Training Program scholarship(to S.K.)+2 种基金supported by Italian Ministry of Health Young Investigator(GR-2011-02347754 to E.L.)Fondazione Istituto di Ricerca PediatricaeCittàdella Speranza(18-04 to E.L.)supported by the Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology(CRE-SLANG)(1116976)
文摘Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s revised diagnostic criteria,affected individuals can be clinically classified as classic or atypical RTT(Neul et al.,2010).
