Article

Characterizing CSNK2A1 Mutant-Induced Morphological Phenotypes in Zebrafish (Danio rerio): Insights into Okur-Chung Neurodevelopmental Syndrome (OCNDS)

2024-01-11

Abstract excerpt

Okur-Chung Neurodevelopmental Syndrome (OCNDS) is a rare, autosomal dominant disorder caused by heterozygous pathogenic variants in the CSNK2A1 gene. CSNK2A1 encodes the α subunit of protein kinase CK2, involved in diverse biological processes. In 2016, Okur et al. reported the discovery of germline de novo missense and canonical splice site mutations in CSNK2A1 in five female patients with OCNDS. The syndrome is...

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Literature Corpus work: 7eeb11e8-8394-5cf9-aa1b-e118cf9e73f5
DOI: 10.1101/2024.01.09.574075

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