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Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia

Cinthya J. Zepeda-Mendoza, Anna Essendrup, Stephanie A. Smoley, Sarah H. Johnson, Nicole L. Hoppman, George Vasmatzis, Daniel L. Jackson, Hutton M. Kearney, Linda B. Baughn

CLINICAL CASE REPORTS（2021）

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Abstract
This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
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Key words
mate pair,SMAD2,duplication,dextrocardia,heterotaxy
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