Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958)
Introduction. X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene is one of the most common monogenic variants of intellectual deficiency in women.Purpose of the study. Description of the clinical and genetic characteristics of Russian female patients with type 102 menta...
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| Main Authors: | E. L. Dadali, T. V. Markova, O. A. Levchenko, A. L. Chukhrova, O. A. Shchagina |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2020-06-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/375 |
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