Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene

Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation, as well as in typically developing children (“primary” stereotypies, pCMS). The precise pathophysiological mechanism for motor stereotypies is unknown, although genetic eti...

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Detalles Bibliográficos
Autores principales: Fernandez, Thomas V., Williams, Zsanett P., Kline, Tina, Rajendran, Shreenath, Augustine, Farhan, Wright, Nicole, Sullivan, Catherine A. W., Olfson, Emily, Abdallah, Sarah B., Liu, Wenzhong, Hoffman, Ellen J., Gupta, Abha R., Singer, Harvey S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547198/
https://www.ncbi.nlm.nih.gov/pubmed/37788244
http://dx.doi.org/10.1371/journal.pone.0291978

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