Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls
Sign Up to like & getrecommendations! Published in 2018 at "Indian Pediatrics"
DOI: 10.1007/s13312-018-1336-y
Abstract: ObjectiveTo assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome.DesignDescriptive study.SettingTertiary-care medical genetics center.PatientsGirls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical… read more here.
Keywords: testing mecp2; group; rett syndrome; mecp2 gene ... See more keywords
[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