Article

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

2021-08-04

Abstract excerpt

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 motor incoordination. There are no effective treatments available for PTHS, but the root cause of the disorder, TCF4...

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Literature Corpus work: d1fb1ce5-ae35-5a6b-85fa-670c445b8310
DOI: 10.1101/2021.08.02.454783

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