Associated Papers
A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.
Li X et al.
Molecular Genetics & Genomic Medicine, 2025
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome.
Ramadesikan S et al.
Hgg Advances, 2025
OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden.
Bagatelas ED et al.
Frontiers in Human Neuroscience, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.
Nan H et al.
Molecular Genetics & Genomic Medicine, 2024
A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient.
Zhuri D et al.
Molecular Syndromology, 2024
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
Jafari Khamirani H et al.
Molecular Syndromology, 2022
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
Murakami H et al.
Molecular Syndromology, 2022
Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?
Ballardin D et al.
Frontiers in Molecular Biosciences, 2022
Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.
Unni P et al.
Frontiers in Molecular Biosciences, 2022
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.
Dominguez I et al.
Human Genetics, 2021
Identification of novel CSNK2A1 variants and the genotype-phenotype relationship in patients with Okur-Chung neurodevelopmental syndrome: a case report and systematic literature review.
Wu RH et al.
The Journal of International Medical Research, 2021
A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.
Loukil A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
KinaseMD: kinase mutations and drug response database.
Hu R et al.
Nucleic Acids Research, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
[A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].
Duan HL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.
Nakashima M et al.
Journal of Human Genetics, 2019
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Owen CI et al.
American Journal of Medical Genetics. Part A, 2018
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Chiu ATG et al.
Clinical Genetics, 2018
Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma.
Simpson HM et al.
Plos One, 2015