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

Clinical dysmorphology - 1 Jul 2021

Ohashi Ikuko, Kuroda Yukiko, Enomoto Yumi, Murakami Hiroaki, Masuno Mitsuo, Kurosawa Kenji

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Share to Abnormalities, Multiple
Share to Casein Kinase II
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

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Identifiers

PMID: 33758130
DOI: 10.1097/MCD.0000000000000372

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.PMID 33758130Read ↗

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CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.Semantic proximity Read ↗

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.Semantic proximity Read ↗

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

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

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