De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene. METHODS: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for...

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Detalles Bibliográficos
Autores principales: Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H., Klee, Eric W., Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., Koeleman, Bobby P. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394879/
https://www.ncbi.nlm.nih.gov/pubmed/32366965
http://dx.doi.org/10.1038/s41436-020-0815-4

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