Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia. Issue 2 (10th December 2020)
- Record Type:
- Journal Article
- Title:
- Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia. Issue 2 (10th December 2020)
- Main Title:
- Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia
- 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. - Abstract:
- 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. 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.
- Is Part Of:
- Clinical case reports. Volume 9:Issue 2(2021)
- Journal:
- Clinical case reports
- Issue:
- Volume 9:Issue 2(2021)
- Issue Display:
- Volume 9, Issue 2 (2021)
- Year:
- 2021
- Volume:
- 9
- Issue:
- 2
- Issue Sort Value:
- 2021-0009-0002-0000
- Page Start:
- 769
- Page End:
- 774
- Publication Date:
- 2020-12-10
- Subjects:
- mate pair -- SMAD2 -- duplication -- dextrocardia -- heterotaxy
Medicine -- Periodicals
616.09 - Journal URLs:
- http://onlinelibrary.wiley.com/ ↗
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2050-0904 ↗ - DOI:
- 10.1002/ccr3.3608 ↗
- Languages:
- English
- ISSNs:
- 2050-0904
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 21975.xml