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
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
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap N et al.
Clinical Genetics, 2023
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
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
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017