Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer Syndrome

Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer Syndrome

Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants in the CCR4-NOT transcription complex, subunit 1 g...

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Bibliographic Details
Main Authors: Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Simei Wang, Man Xiao, Yongchen Yang, Hong Zhang, Shengnan Wu
Format: Article
Language:English
Published: Elsevier 2024-02-01
Series:Heliyon
Subjects:
CNOT1
Vissers-Bodmer syndrome
Whole-exome sequencing
Frameshift
Missense variant
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024027749

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http://www.sciencedirect.com/science/article/pii/S2405844024027749

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