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Your search keyword '"Hutton M. Kearney"' showing total 2 results
Start Over Author "Hutton M. Kearney" Journal clinical case reports
2 results on '"Hutton M. Kearney"'

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

Author

Cinthya J. Zepeda‐Mendoza, Anna Essendrup, Stephanie A. Smoley, Sarah H. Johnson, Nicole L Hoppman, George Vasmatzis, Daniel L. Jackson, Hutton M. Kearney, and Linda B. Baughn

Subjects
mate pair, SMAD2, duplication, dextrocardia, heterotaxy, Medicine, Medicine (General), R5-920
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.

Published
2021
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2. Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia

Author

Linda B. Baughn, Anna Essendrup, Cinthya J. Zepeda-Mendoza, Hutton M. Kearney, Daniel L. Jackson, Nicole L. Hoppman, George Vasmatzis, Stephanie A. Smoley, and Sarah Johnson

Subjects
Genetic counseling, lcsh:Medicine, Case Report, Case Reports, 030204 cardiovascular system & hematology, Mate pair, Medical care, SMAD2, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, medicine, dextrocardia, Dextrocardia, Genetics, mate pair, Fetus, lcsh:R5-920, business.industry, lcsh:R, General Medicine, heterotaxy, medicine.disease, duplication, 030220 oncology & carcinogenesis, business, lcsh:Medicine (General), Heterotaxy
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.

Published
2021

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