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A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay
Dual-specificity tyrosine phosphorylation-regulated kinase 1 A (DYRK1A) is essential for human development, and DYRK1A haploinsufficiency is associated with a recognizable developmental syndrome and variable clinical features. Here, we present a patient with DYRK1A haploinsufficiency syndrome, inclu...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299959/ https://www.ncbi.nlm.nih.gov/pubmed/32555303 http://dx.doi.org/10.1038/s41598-020-66750-y |