Article
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.
Human molecular genetics - 15 Mar 2013
Bassuk Alexander G, Muthuswamy Lakshmi B, Boland Riley, Smith Tiffany L, Hulstrand Alissa M, Northrup Hope, Hakeman Matthew, Dierdorff Jason M, Yung Christina K, Long Abby, Brouillette Rachel B, Au Kit Sing, Gurnett Christina, Houston Douglas W, Cornell Robert A, Manak J Robert
Abstract excerpt
Neural tube defects (NTDs) are common birth defects of complex etiology. Family and population-based studies have confirmed a genetic component to NTDs. However, despite more than three decades of research, the genes involved in human NTDs remain largely unknown. We tested the hypothesis that rare copy number variants (CNVs), especially de novo germline CNVs, are a significant risk factor for NTDs. We used...
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