Detection of pathogenic gene copy number
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Yao-Shan Fan; Parul Jayakar; Hongbo Zhu; Deborah Barbouth; Stephanie Sacharow; A
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Article
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2007
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John Wiley and Sons
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English
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## Communicated by Mireille Claustres Genomic imbalance is a major cause of developmental disorders. Microarray-based comparative genomic hybridization (aCGH) has revealed frequent imbalances associated with clinical syndromes, but also a large number of copy number variations (CNVs), which have co