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Article

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.

American journal of human genetics - 1 Feb 2018

Yin Jiani, Chen Wu, Chao Eugene S, Soriano Sirena, Wang Li, Wang Wei, Cummock Steven E, Tao Huifang, Pang Kaifang, Liu Zhandong, Pereira Fred A, Samaco Rodney C, Zoghbi Huda Y, Xue Mingshan, Schaaf Christian P

Abstract excerpt

15q13.3 microdeletion syndrome is characterized by a wide spectrum of neurodevelopmental disorders, including developmental delay, intellectual disability, epilepsy, language impairment, abnormal behaviors, neuropsychiatric disorders, and hypotonia. This syndrome is caused by a deletion on chromosome 15q, which typically encompasses six genes. Here, through studies on OTU deubiquitinase 7A (Otud7a) knockout mice,...

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Identifiers

PMID: 29395075
DOI: 10.1016/j.ajhg.2018.01.005
PMCID: PMC5985472

Genes

OTUD7A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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