Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant

Autism spectrum disorder (ASD) describes a complex and heterogenous group of neurodevelopmental disorders. Whole genome sequencing continues to shed light on the multifactorial etiology of ASD. Dysregulated transcriptional pathways have been implicated in neurodevelopmental disorders. Emerging evide...

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Detalles Bibliográficos
Autores principales: Evans, Daniel R., Qiao, Ying, Trost, Brett, Calli, Kristina, Martell, Sally, Jones, Steven J. M., Scherer, Stephen W., Lewis, M. E. Suzanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955435/
https://www.ncbi.nlm.nih.gov/pubmed/35328024
http://dx.doi.org/10.3390/genes13030470

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955435/
https://www.ncbi.nlm.nih.gov/pubmed/35328024
http://dx.doi.org/10.3390/genes13030470

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