DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

Authors

Laura E Meissner
Ellen F Macnamara
Precilla D'Souza
John Yang
Gilbert Vezina, George Washington University
Carlos R Ferreira
Wadih M Zein
Cynthia J Tifft
David R Adams

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

Comments

Epub 2020 Nov 7

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