A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

Abstract Background TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has...

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Bibliographic Details
Main Authors: Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autism spectrum disorder
global developmental delay
TOP2B
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1145

Internet

https://doi.org/10.1002/mgg3.1145

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