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.

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869371/
https://www.ncbi.nlm.nih.gov/pubmed/33598243
http://dx.doi.org/10.1002/ccr3.3608

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869371/
https://www.ncbi.nlm.nih.gov/pubmed/33598243
http://dx.doi.org/10.1002/ccr3.3608

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