A Case of CSNK2A1 Gene Variant Causing Okur‐Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum

ABSTRACT Backgroud To investigate the clinical features and genetic etiology of one child with Okur‐Chung neurodevelopmental syndrome (OCNDS). The pathogenic variation spectrum of the CSNK2A1 gene and the phenotype spectrum of OCNDS were analyzed retrospectively. Methods A patient was selected from...

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Autores principales:	Xin Li, Shuping Wang, Xin Liu, Zhenjing Wang, Na Lv, Shaoting Wang, Wentao Yang
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2025-12-01
Colección:	Molecular Genetics & Genomic Medicine
Materias:	CSNK2A1 gene OCNDS phenotype spectrum retrospective analysis
Acceso en línea:	https://doi.org/10.1002/mgg3.70166
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!