Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
Abstract Background X-linked methyl-CpG-binding protein 2 (MECP2) duplication syndrome is prevalent in approximately 1% of X-linked intellectual disabilities. Accumulating evidence has suggested that MECP2 is the causative gene of MECP2 duplication syndrome. We report a case of a 17-year-old boy wit...
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| Автори: | , , , |
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| Формат: | Книга |
| Опубліковано: |
BMC,
2023-03-01T00:00:00Z.
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A1234.567 |
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| Примірник 1 | Доступно |