Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.7.11.1 (
protein kinase
)
81,284
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome. 2961 37
