Article
Okur-Chung Neurodevelopmental Syndrome-linked CK2α mutations have reduced kinase activity
2021-02-17
Abstract excerpt
<title>Abstract</title> <p>The Okur-Chung Neurodevelopmental Syndrome, or OCNDS, is a newly discovered rare neurodevelopmental disorder. It is characterized by developmental delay, intellectual disability, behavioral problems (hyperactivity, repetitive movements and social interaction deficits), hypotonia, epilepsy and language/verbalization deficits. OCNDS is linked to de novo variants in CSNK2A1, that lead to m...
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Identifiers and source
- Literature Corpus work
- 04ecb2a5-8766-5283-915c-b778fbb8d33d
- DOI
- 10.21203/rs.3.rs-233118/v1
