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The patient-specific mouse model with <i>Foxg1</i> frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome

2025-01-22

Abstract excerpt

<h4>Abstracts</h4> Single allelic mutations in the forebrain-specific transcription factor gene FOXG1 lead to FOXG1 syndrome (FS). To decipher the disease mechanisms of FS, which vary depending on FOXG1 mutation types, patient-specific animal models are critical. Here, we report the first patient-specific FS mouse model, Q84Pfs heterozygous (Q84Pfs-Het) mice, which emulates one of the most predominant FS varian...

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Literature Corpus work
de4f3ccb-403e-5ab2-b742-739fca020a6b
DOI
10.1101/2025.01.21.634140
Open publication

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The patient-specific mouse model with <i>Foxg1</i> frameshift mutation provides insights into the pathophysiology of FOXG1 syndromeDOI 10.1101/2025.01.21.634140
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