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

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 remains u...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Takeguchi, Ryo, Takahashi, Satoru, Kuroda, Mami, Tanaka, Ryosuke, Suzuki, Nao, Tomonoh, Yuko, Ihara, Yukiko, Sugiyama, Nobuyoshi, Itoh, Masayuki
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
Soggetti:
Clinical Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005616/
https://ncbi.nlm.nih.gov/pubmed/31816669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1088
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