Contribution of Rare Copy Number Variants to Isolated Human Malformations

Serra‐Juhé, Clara; Rodríguez‐Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; A. Pérez‐Jurado, Luis

doi:10.1371/journal.pone.0045530

Public

Contribution of Rare Copy Number Variants to Isolated Human Malformations

Published in PLoS ONE • Oct 3, 2012

Authors:

Clara Serra‐Juhé

Benjamín Rodríguez‐Santiago

Ivon Cuscó

Abstract

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...

Subject

Multiplex ligation-dependent probe amplification

Copy-number variation

Biology

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