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Penetrance rate estimation in autosomal dominant conditions

Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance r...

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Detalles Bibliográficos
Autores principales: Otto, Paulo A., Horimoto, Andréa R.V.R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459406/
https://www.ncbi.nlm.nih.gov/pubmed/23055795
http://dx.doi.org/10.1590/S1415-47572012005000051