Clinical significance and mechanisms associated with segmental UPD
Abstract Whole chromosome uniparental disomy (UPD) has been well documented with mechanisms largely understood. However, the etiology of segmental limited UPD (segUPD) is not as clear. In a 10-year period of confirming (> 300) cases of whole chromosome UPD, we identified 86 segmental cases in bot...
Main Authors: | Peter R. Papenhausen, Carla A. Kelly, Samuel Harris, Samantha Caldwell, Stuart Schwartz, Andrea Penton |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-07-01
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Series: | Molecular Cytogenetics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13039-021-00555-0 |
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