A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature
Abstract Background Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a 'de novo' event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/...
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Main Authors: | , , , , , , , |
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Format: | Book |
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BMC,
2018-10-01T00:00:00Z.
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A1234.567 |
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