Distinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus

Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup)...

Descripción completa

Detalles Bibliográficos
Autores principales: O’Hora, Kathleen P., Kushan-Wells, Leila, Hoftman, Gil D., Jalbrzikowski, Maria, Gur, Raquel C., Gur, Ruben, Bearden, Carrie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246073/
https://www.ncbi.nlm.nih.gov/pubmed/37292882
http://dx.doi.org/10.1101/2023.05.12.23289905

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246073/
https://www.ncbi.nlm.nih.gov/pubmed/37292882
http://dx.doi.org/10.1101/2023.05.12.23289905

Ejemplares similares