Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review

Pathogenic variants in the nuclear receptor superfamily 4 group A member 2 (NR4A2) cause an autosomal dominant neurodevelopmental disorder with or without seizures. Here, we described two patients presenting with developmental delay, language impairment, and attention-deficit hyperactivity disorder....

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Detalles Bibliográficos
Autores principales: Song, Xiaozhen, Xu, Wuhen, Xiao, Man, Lu, Yanfen, Lan, Xiaoping, Tang, Xiaojun, Xu, Nanjie, Yu, Guangjun, Zhang, Hong, Wu, Shengnan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9383035/
https://www.ncbi.nlm.nih.gov/pubmed/35992907
http://dx.doi.org/10.3389/fnins.2022.956429

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9383035/
https://www.ncbi.nlm.nih.gov/pubmed/35992907
http://dx.doi.org/10.3389/fnins.2022.956429

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