@article{e1b2d4a51ab64976850d50576f103831,
title = "Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia",
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.",
keywords = "SMAD2, dextrocardia, duplication, heterotaxy, mate pair",
author = "Zepeda-Mendoza, {Cinthya J.} and Anna Essendrup and Smoley, {Stephanie A.} and Johnson, {Sarah H.} and Hoppman, {Nicole L.} and George Vasmatzis and Jackson, {Daniel L.} and Kearney, {Hutton M.} and Baughn, {Linda B.}",
note = "Funding Information: This study was supported by the Mayo Clinic Department of Laboratory Medicine and Pathology. Publisher Copyright: {\textcopyright} 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.",
year = "2021",
month = feb,
doi = "10.1002/ccr3.3608",
language = "English (US)",
volume = "9",
pages = "769--774",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "John Wiley and Sons Ltd",
number = "2",
}