MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome

Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. Its causative gene is the X‐linked MECP2 encoding the methyl‐CpG‐binding protein 2 (MeCP2). The gene comprises four exons and generates two isoforms, namely MECP2_e1 and MECP2_e2. However, it r...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ryo Takeguchi, Satoru Takahashi, Mami Kuroda, Ryosuke Tanaka, Nao Suzuki, Yuko Tomonoh, Yukiko Ihara, Nobuyoshi Sugiyama, Masayuki Itoh
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wiley 2020-02-01
Cyfres:Molecular Genetics & Genomic Medicine
Pynciau:
male with Rett syndrome
MeCP2 isoform
MeCP2_e1
MeCP2_e2
somatic mosaicism
Mynediad Ar-lein:https://doi.org/10.1002/mgg3.1088
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