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Focusing on the biological phenomenon of uniparental disomy (UPD), this book explores its implications for congenital diseases and includes eight testimonials from affected families. It addresses critical questions about UPD, including its definition, prevalence, developmental mechanisms, and clinical consequences. The text clarifies the distinction between congenital and acquired UPD and discusses related topics such as imprinting, syndromes, and potential gene therapies, positioning UPD as a chromosomal phenomenon rather than merely a genetic issue.
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All you need to know about uniparental disomy, Dr. Thomas Liehr
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- Année de publication
- 2024
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