Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
Abstract Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explo...
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Main Authors: | , , , , , , , , , , , , , |
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Format: | Book |
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BMC,
2019-08-01T00:00:00Z.
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A1234.567 |
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Copy 1 | Available |