PTPN4 germline variants result in aberrant neurodevelopment and growth
Publication/Presentation Date
7-8-2021
Abstract
Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germline and somatic human disease. Using exome sequencing, we identified missense and truncating variants in
Volume
2
Issue
3
ISSN
2666-2477
Published In/Presented At
Chmielewska, J. J., Burkardt, D., Granadillo, J. L., Slaugh, R., Morgan, S., Rotenberg, J., Keren, B., Mignot, C., Escobar, L., Turnpenny, P., Zuteck, M., Seaver, L. H., Ploski, R., Dziembowska, M., Wynshaw-Boris, A., & Adegbola, A. (2021). PTPN4 germline variants result in aberrant neurodevelopment and growth. HGG advances, 2(3), 100033. https://doi.org/10.1016/j.xhgg.2021.100033
Disciplines
Psychiatry
PubMedID
34527963
Department(s)
Department of Psychiatry
Document Type
Article