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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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Genetics and Genomics
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

Internet

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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