Contribution of Rare Copy Number Variants to Isolated Human Malformations

BACKGROUND: Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, g...

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Bibliographic Details
Main Authors: Serra-Juhé, Clara, Rodríguez-Santiago, Benjamín, Cuscó, Ivon, Vendrell, Teresa, Camats, Núria, Torán, Núria, Pérez-Jurado, Luis A.
Format: Artigo
Language:Inglês
Published: Public Library of Science 2012
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3463597/
https://ncbi.nlm.nih.gov/pubmed/23056206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0045530
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