Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions with segmental duplications or low-copy repeats (LCRs). Williams-Beuren syndrome (WBS) is a neurodevelopment...

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Bibliographic Details
Main Authors: Cuscó, Ivon, Corominas, Roser, Bayés, Mònica, Flores, Raquel, Rivera-Brugués, Núria, Campuzano, Victoria, Pérez-Jurado, Luis A.
Format: Artigo
Language:Inglês
Published: Cold Spring Harbor Laboratory Press 2008
Subjects:
Letter
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2336808/
https://ncbi.nlm.nih.gov/pubmed/18292220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.073197.107
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