OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.

doi:10.1016/j.ajhg.2018.01.006

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Article

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.

American journal of human genetics - 1 Feb 2018

Uddin Mohammed, Unda Brianna K, Kwan Vickie, Holzapfel Nicholas T, White Sean H, Chalil Leon, Woodbury-Smith Marc, Ho Karen S, Harward Erin, Murtaza Nadeem, Dave Biren, Pellecchia Giovanna, D'Abate Lia, Nalpathamkalam Thomas, Lamoureux Sylvia, Wei John, Speevak Marsha, Stavropoulos James, Hope Kristin J, Doble Brad W, Nielsen Jacob, Wassman E Robert, Scherer Stephen W, Singh Karun K

Abstract excerpt

Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is associated with numerous conditions, including autism spectrum disorder (ASD), epilepsy, schizophrenia, and intellectual disability; however, the mechanisms underlying the pathogenesis of 15q13.3 microdeletion syndrome remain unknown. We...

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PMID: 29395074
DOI: 10.1016/j.ajhg.2018.01.006
PMCID: PMC5985537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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