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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...
Autores principales: | Kim, Hyojin, Gao, Eric B, Draper, Adam, Berens, Noah C, Vihma, Hanna, Zhang, Xinyuan, Higashi-Howard, Alexandra, Ritola, Kimberly D, Simon, Jeremy M, Kennedy, Andrew J, Philpot, Benjamin D |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9090324/ https://www.ncbi.nlm.nih.gov/pubmed/35535852 http://dx.doi.org/10.7554/eLife.72290 |
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