Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Tcf4 expression

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by monoallelic mutation or deletion in the transcription factor 4 (TCF4) gene. Individuals with PTHS typically present in the first year of life with developmental delay and exhibit intellectual disability, lack of speech, and moto...

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Main Authors: Hyojin Kim, Eric B Gao, Adam Draper, Noah C Berens, Hanna Vihma, Xinyuan Zhang, Alexandra Higashi-Howard, Kimberly D Ritola, Jeremy M Simon, Andrew J Kennedy, Benjamin D Philpot
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications Ltd 2022-05-01
Colecção:eLife
Assuntos:
gene therapy
neurodevelopmental disorder
Pitt-Hopkins syndrome
Acesso em linha:https://elifesciences.org/articles/72290
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