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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.
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |
| _version_ | 1783648617692659712 |
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| author | 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. |
| author_facet | 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. |
| author_sort | Zepeda‐Mendoza, Cinthya J. |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-7869371 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-78693712021-02-16 Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia 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. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-12-10 /pmc/articles/PMC7869371/ /pubmed/33598243 http://dx.doi.org/10.1002/ccr3.3608 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Case Reports 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. Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia |
| title | Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia |
| title_full | Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia |
| title_fullStr | Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia |
| title_full_unstemmed | Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia |
| title_short | Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia |
| title_sort | prenatal characterization of a novel inverted smad2 duplication by mate pair sequencing in a fetus with dextrocardia |
| topic | Case Reports |
| url | 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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