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Effects of Gene Dosage and Development on Subcortical Nuclei Volumes in Individuals with 22q11.2 Copy Number Variations

The 22q11.2 locus contains genes critical for brain development. Reciprocal Copy Number Variations (CNVs) at this locus impact risk for neurodevelopmental and psychiatric disorders. Both 22q11.2 deletions (22qDel) and duplications (22qDup) are associated with autism, but 22qDel uniquely elevates sch...

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Detalles Bibliográficos
Autores principales: Schleifer, Charles H., O’Hora, Kathleen P., Fung, Hoki, Xu, Jennifer, Robinson, Taylor-Ann, Wu, Angela S., Kushan-Wells, Leila, Lin, Amy, Ching, Christopher R. K., Bearden, Carrie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10635019/
https://www.ncbi.nlm.nih.gov/pubmed/37961662
http://dx.doi.org/10.1101/2023.10.31.564553

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