Estimates of penetrance for recurrent pathogenic copy-number variations

PURPOSE: Although an increasing number of copy-number variations are being identified as susceptibility loci for a variety of pediatric diseases, the penetrance of these copy-number variations remains mostly unknown. This poses challenges for counseling, both for recurrence risks and prenatal diagno...

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Detalles Bibliográficos
Autores principales: Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664238/
https://www.ncbi.nlm.nih.gov/pubmed/23258348
http://dx.doi.org/10.1038/gim.2012.164

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664238/
https://www.ncbi.nlm.nih.gov/pubmed/23258348
http://dx.doi.org/10.1038/gim.2012.164

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