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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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Haitian Nan, Min Chu, Jing Zhang, Deming Jiang, Yihao Wang, Liyong Wu
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Wiley 2024-03-01
Σειρά:	Molecular Genetics & Genomic Medicine
Θέματα:	CSNK2A1 nonsense‐mediated mRNA decay OCNDS Okur‐Chung neurodevelopmental syndrome phenotype
Διαθέσιμο Online:	https://doi.org/10.1002/mgg3.2398
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