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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....
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |