Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-03-29

AUTHORS

Moe Akahira-Azuma, Yoshinori Tsurusaki, Yumi Enomoto, Jun Mitsui, Kenji Kurosawa

ABSTRACT

We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1, c.593A>G, that is causative of Okur-Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior. His dysmorphic features might suggest a congenital histone modification defect syndrome, such as Kleefstra, Coffin-Siris, or Rubinstein-Taybi syndromes, which are indicative of functional interactions between the casein kinase II, alpha 1 gene and histone modification factors. More... »

PAGES

18011

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2018.11

DOI

http://dx.doi.org/10.1038/hgv.2018.11

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1101830321

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29619237


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