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

doi:10.1016/j.biopsych.2021.12.017

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Article

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

Biological psychiatry - 15 Aug 2022

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

Abstract excerpt

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 identify gene variants responsible for syndromic ID with autistic features in two independent consanguineous...

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PMID: 35227461
DOI: 10.1016/j.biopsych.2021.12.017
PMCID: PMC9302898

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