Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies

BackgroundFOXG1-related encephalopathy, also known as FOXG1 syndrome or FOXG1-related disorder, affects most aspects of development and causes microcephaly and brain malformations. This syndrome was previously considered to be the congenital variant of Rett syndrome. The abnormal function or express...

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Detalhes bibliográficos

Principais autores:	Guanting Lu, Yan Zhang, Huiyun Xia, Xiaoyan He, Pei Xu, Lianying Wu, Ding Li, Liya Ma, Jin Wu, Qiongling Peng
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2022-12-01
coleção:	Frontiers in Molecular Neuroscience
Assuntos:	Rett syndrome FOXG1-related encephalopathy FOXG1 PRKD1 haploinsufficiency intergenic regulatory elements
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fnmol.2022.1039990/full
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