Okur‐Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion

Abstract Background Okur‐Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1. It is characterized by intellectual disability, developmental delay, and multisystemic abnormalities. Methods We performed the whole‐exome sequencing for...

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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Haitian Nan, Min Chu, Jing Zhang, Deming Jiang, Yihao Wang, Liyong Wu
Format:	Article
Language:	English
Published:	Wiley 2024-03-01
Subjects:	CSNK2A1 nonsense‐mediated mRNA decay OCNDS Okur‐Chung neurodevelopmental syndrome phenotype
Online Access:	https://doi.org/10.1002/mgg3.2398