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

Autor: Ahmed H. Al-Amri, Paul Armstrong, Mascia Amici, Clemence Ligneul, James Rouse, Mohammed E. El-Asrag, Andreea Pantiru, Valerie E. Vancollie, Hannah W.Y. Ng, Jennifer A. Ogbeta, Kirstie Goodchild, Jacob Ellegood, Christopher J. Lelliott, Jonathan G.L. Mullins, Amanda Bretman, Ruslan Al-Ali, Christian Beetz, Lihadh Al-Gazali, Aisha Al Shamsi, Jason P. Lerch, Jack R. Mellor, Abeer Al Sayegh, Manir Ali, Chris F. Inglehearn, Steven J. Clapcote

Publikováno v: Al-Amri, A H, Armstrong, P, Amici, M, Ligneul, C, Mellor, J R & Clapcote, S J 2022, ' PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice and Fruit Flies ', Biological Psychiatry, vol. 92, no. 4, pp. 323-334 . https://doi.org/10.1016/j.biopsych.2021.12.017

BackgroundThe 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.MethodsHomozygosity mapping, whole-exome sequen

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