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Published in 2019 at "Cytogenetic and Genome Research"
DOI: 10.1159/000497173
Abstract: This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. Several genetic tests were carried out to determine the…
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Keywords:
novo unbalanced;
deletion;
translocation 22q11;
unbalanced translocation ... See more keywords