Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report
Abstract Background The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. The underlying mechanisms include epimutations, uniparental disomy, copy number variations, and structural rearrangements. In addition, m...
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Materyal Türü: | Kitap |
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BMC,
2019-06-01T00:00:00Z.
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Yer Numarası: |
A1234.567 |
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Kopya Bilgisi 1 | Kütüphanede |