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A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review
De novo DDX3X variants account for 1%–3% of intellectual disability (ID) in females and have been occasionally reported in males. Here, we report a female patient with severe ID and various other features, including epilepsy, movement disorders, behavior problems, sleep disturbance, precocious puber...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7344189/ https://www.ncbi.nlm.nih.gov/pubmed/32714884 http://dx.doi.org/10.3389/fped.2020.00303 |