Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies.
Frontiers in molecular neuroscience(2022)
Abstract
This re-analysis would broaden the existed knowledge about the molecular etiology and be helpful for diagnosis, treatment, and gene therapy of FOXG1-related disorders in the future.
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Key words
FOXG1,FOXG1-related encephalopathy,PRKD1,Rett syndrome,haploinsufficiency,intergenic regulatory elements
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