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...
| المؤلفون الرئيسيون: | , , , , , |
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| التنسيق: | مقال |
| اللغة: | English |
| منشور في: |
Frontiers Media S.A.
2020-06-01
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| سلاسل: | Frontiers in Pediatrics |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.frontiersin.org/article/10.3389/fped.2020.00303/full |