[Rett Syndrome: MECP2 gene molecular analysis in Chilean patients].
Sign Up to like & getrecommendations! Published in 2019 at "Revista chilena de pediatria"
DOI: 10.32641/rchped.v90i2.724
Abstract: INTRODUCTION Rett syndrome (RTT) is a progressive neurological disorder characterized by regres sion of psychomotor development in previously healthy girls. Most cases are due to pathogenic va riants in the MECP2 gene which encodes for… read more here.
Keywords: pathogenic variants; rett syndrome; mecp2 gene; syndrome mecp2 ... See more keywords
Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.838206
Abstract: Rett syndrome (RTT) is a rare neurodevelopmental disorder characterized by severe cognitive, social, and physical impairments resulting from de novo mutations in the X-chromosomal methyl-CpG binding protein gene 2 (MECP2). While there is still no… read more here.
Keywords: neuroimaging rett; rett syndrome; syndrome mecp2; mecp2 mutation ... See more keywords