Associated Papers
MECP2 Variants in Males: More Common than Previously Appreciated.
Ananth A et al.
Pediatric Neurology, 2024
Genetic Instability and Disease Progression of Indian Rett Syndrome Patients.
Gomathi M et al.
Molecular Neurobiology, 2024
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels.
Zhou J et al.
Genes & Development, 2023
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Cooley Coleman JA et al.
American Journal of Medical Genetics. Part A, 2022
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.
Shah J et al.
Bmc Neurology, 2021
Genetic testing in individuals with cerebral palsy.
May HJ et al.
Developmental Medicine and Child Neurology, 2021
MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome.
Takeguchi R et al.
Molecular Genetics & Genomic Medicine, 2020
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.
Zhang Q et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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