Associated Papers
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
Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.
Pieras JI et al.
Brain & Development, 2011
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