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A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy

Pathogenic variants in CHD2 have been reported to have a wide range of phenotypic variability in neurodevelopmental disorders, such as early-onset epileptic encephalopathy, developmental delay, and behavior problems. So far, there is no clear correlation between genotypes and phenotypes. This study...

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Detalles Bibliográficos
Autores principales: Zhu, Lina, Peng, Fujun, Deng, Zengwen, Feng, Zhichun, Ma, Xiuwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8873980/
https://www.ncbi.nlm.nih.gov/pubmed/35222528
http://dx.doi.org/10.3389/fgene.2022.761178