Article

The patient-specific mouse model with Foxg1 frameshift mutation uncovers the pathophysiology of FOXG1 syndrome

2023-06-02

Abstract excerpt

<title>Abstract</title> <p>Single allelic mutations in the gene encoding the forebrain-specific transcription factor FOXG1 lead to FOXG1 syndrome (FS). Patient-specific animal models are needed to understand the etiology of FS, as FS patients show a wide spectrum of symptoms correlated with location and mutation type in the FOXG1 gene. Here we report the first patient-specific FS mouse model, Q84Pfs heterozygous...

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Literature Corpus work: 19eeb997-930c-540f-ac29-8ebda20d1679
DOI: 10.21203/rs.3.rs-2953760/v1

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