Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

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....

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Detalles Bibliográficos
Autores principales: Akahira-Azuma, Moe, Tsurusaki, Yoshinori, Enomoto, Yumi, Mitsui, Jun, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874396/
https://www.ncbi.nlm.nih.gov/pubmed/29619237
http://dx.doi.org/10.1038/hgv.2018.11

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874396/
https://www.ncbi.nlm.nih.gov/pubmed/29619237
http://dx.doi.org/10.1038/hgv.2018.11

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