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

BACKGROUND: FOXG1-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 expre...

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Detalles Bibliográficos
Autores principales: Lu, Guanting, Zhang, Yan, Xia, Huiyun, He, Xiaoyan, Xu, Pei, Wu, Lianying, Li, Ding, Ma, Liya, Wu, Jin, Peng, Qiongling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768341/
https://www.ncbi.nlm.nih.gov/pubmed/36568277
http://dx.doi.org/10.3389/fnmol.2022.1039990

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