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...

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Detalles Bibliográficos
Autores principales: Lee, Kyu-Sun, Choi, Miri, Kwon, Dae-Woo, Kim, Doyoun, Choi, Jong-Moon, Kim, Ae-Kyeong, Ham, Youngwook, Han, Sang-Bae, Cho, Sungchan, Cheon, Chong Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
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

Internet

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

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