Clinical significance and mechanisms associated with segmental UPD

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 both prenata...

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Detalles Bibliográficos
Autores principales: Papenhausen, Peter R., Kelly, Carla A., Harris, Samuel, Caldwell, Samantha, Schwartz, Stuart, Penton, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8290618/
https://www.ncbi.nlm.nih.gov/pubmed/34284807
http://dx.doi.org/10.1186/s13039-021-00555-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8290618/
https://www.ncbi.nlm.nih.gov/pubmed/34284807
http://dx.doi.org/10.1186/s13039-021-00555-0

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