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The book delves into genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder characterized by the presence of a chromosome pair from a single parent, resulting in rare diseases. It provides a comprehensive overview of the molecular and cytogenetic foundations of UPD, followed by an exploration of its various chromosomal origins. Additionally, the latest insights into genotype-phenotype correlations and the clinical implications of UPD are thoroughly examined, making it a valuable resource for understanding this complex disorder.
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Uniparental Disomy (UPD) in Clinical Genetics, Thomas Liehr
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- Année de publication
- 2016
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