DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Document Type
Journal Article
Publication Date
12-1-2020
Journal
Molecular Genetics & Genomic Medicine
Volume
8
Issue
12
DOI
10.1002/mgg3.1544
Keywords
Child; Child, Preschool; Eye Abnormalities; Female; Humans; Intellectual Disability; Microcephaly; Mutation; Phenotype; Protein-Serine-Threonine Kinases; Protein-Tyrosine Kinases; Syndrome
APA Citation
Meissner, L., Macnamara, E., D'Souza, P., Yang, J., Vezina, G., Ferreira, C., Zein, W., Tifft, C., & Adams, D. (2020). DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.. Molecular Genetics & Genomic Medicine, 8 (12). http://dx.doi.org/10.1002/mgg3.1544
Peer Reviewed
1
Open Access
1
Comments
Epub 2020 Nov 7