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Article

Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family.

Clinical dysmorphology - 1 Jul 2024

Goel Himanshu, O'Donnell Sheridan

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PMID: 38818820
DOI: 10.1097/MCD.0000000000000502

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Related research

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Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family.PMID 38818820Read ↗

Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype.Semantic proximity Read ↗

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.Semantic proximity Read ↗

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.Semantic proximity Read ↗

Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.Semantic proximity Read ↗

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.Semantic proximity Read ↗

[Identification of a novel de novo variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome].Semantic proximity Read ↗

Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.Semantic proximity Read ↗

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.Semantic proximity Read ↗

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.Semantic proximity Read ↗

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.Semantic proximity Read ↗

Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.Semantic proximity Read ↗

Identification of novel CSNK2A1 variants and the genotype-phenotype relationship in patients with Okur-Chung neurodevelopmental syndrome: a case report and systematic literature review.Semantic proximity Read ↗

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