Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing
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Publisher
England: Oxford University Press
Journal title
Language
English
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Publication information
Publisher
England: Oxford University Press
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Scope and Contents
Contents
Objectives: To establish a genetic and clinical diagnosis in a newborn with fetal-onset dilated cardiomyopathy using next-generation sequencing technologies.
Methods: We have conducted the clinical evaluation of the proband and the molecular characterization of his disease by means of whole-exome sequencing. In addition, the clinical evaluation...
Alternative Titles
Full title
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing
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Record Identifier
TN_cdi_proquest_miscellaneous_1787475541
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1787475541
Other Identifiers
ISSN
0002-9173
E-ISSN
1943-7722
DOI
10.1093/ajcp/aqw025
