Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia.
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ABSTRACT:
SUBMITTER: Zepeda-Mendoza CJ
PROVIDER: S-EPMC7869371 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Publications
Prenatal characterization of a novel inverted <i>SMAD2</i> duplication by mate pair sequencing in a fetus with dextrocardia.
Zepeda-Mendoza Cinthya J CJ Essendrup Anna A Smoley Stephanie A SA Johnson Sarah H SH Hoppman Nicole L NL Vasmatzis George G Jackson Daniel L DL Kearney Hutton M HM Baughn Linda B LB
Clinical case reports 20201210 2
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. ...[more]
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