An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes

IntroductionCTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF. The first CTCF variants in CRD cases were documented in 2013. To date, 76 CTCF variants have been further described in the literature. In recent years, due to the increas...

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Bibliographic Details
Main Authors: Emma Price, Liron M. Fedida, Elena M. Pugacheva, Yon J. Ji, Dmitri Loukinov, Victor V. Lobanenkov
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Molecular Neuroscience
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Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1185796/full