Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A(KAT6A)
Pathogenic variants in methyl-CpG protein 2(MECP2;OMIM 300005)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).After 6-18 months of apparently normal development,girls with the classic form of RTT gradually start losing their previously acquired skills including spoken language and other communication,coordination,and social interaction.
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2021-04-30(万方平台首次上网日期,不代表论文的发表时间)
共5页
650-654