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Article

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

Journal of human genetics - 1 Nov 2017

Trinh Joanne, Hüning Irina, Budler Nadja, Hingst Volker, Lohmann Katja, Gillessen-Kaesbach Gabriele

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Identifiers

PMID: 28725024
DOI: 10.1038/jhg.2017.73

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A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.PMID 28725024Read ↗

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.Semantic proximity Read ↗

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

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

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.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 a novel de novo variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome].Semantic proximity Read ↗

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

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

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

Two different presentations of de novo variants of CSNK2B: two case reports.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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