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
Identification and functional analysis of a novel CSNK2A1 frameshift variant in stillbirth.
Zhang N et al.
Frontiers in Genetics, 2025
Subtelomeric microdeletion in chromosome 20p13 associated with short stature.
Liu J et al.
Clinical Case Reports, 2024
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
Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.
Cerrato-Izaguirre D et al.
International Journal of Molecular Sciences, 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
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
Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.
Colavito D et al.
Journal of Human Genetics, 2018
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Chiu ATG et al.
Clinical Genetics, 2018