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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....
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Genome Var |
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| Κύριοι συγγραφείς: | , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5874396/ https://ncbi.nlm.nih.gov/pubmed/29619237 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.11 |
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