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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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 |