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

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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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Zepeda‐Mendoza, Cinthya J., Essendrup, Anna, Smoley, Stephanie A., Johnson, Sarah H., Hoppman, Nicole L, Vasmatzis, George, Jackson, Daniel L., Kearney, Hutton M., Baughn, Linda B.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7869371/
https://ncbi.nlm.nih.gov/pubmed/33598243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3608
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