PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies

BACKGROUND: The discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability. METHODS: Homozygosity mapping, whole-exome sequencing, and cosegregation analyses were used to...

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Detalles Bibliográficos
Autores principales: Al-Amri, Ahmed H., Armstrong, Paul, Amici, Mascia, Ligneul, Clemence, Rouse, James, El-Asrag, Mohammed E., Pantiru, Andreea, Vancollie, Valerie E., Ng, Hannah W.Y., Ogbeta, Jennifer A., Goodchild, Kirstie, Ellegood, Jacob, Lelliott, Christopher J., Mullins, Jonathan G.L., Bretman, Amanda, Al-Ali, Ruslan, Beetz, Christian, Al-Gazali, Lihadh, Al Shamsi, Aisha, Lerch, Jason P., Mellor, Jack R., Al Sayegh, Abeer, Ali, Manir, Inglehearn, Chris F., Clapcote, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Archival Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302898/
https://www.ncbi.nlm.nih.gov/pubmed/35227461
http://dx.doi.org/10.1016/j.biopsych.2021.12.017

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