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Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1057
Abstract: The 22q11.2 deletion syndrome (22q11.2DS) is the most common contiguous microdeletion affecting humans and exhibits extreme phenotypic heterogeneity. Patients can manifest any combination of comorbidities including congenital heart disease, hypoparathyroidism, cleft palate, kidney abnormalities, neurodevelopmental…
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Keywords:
deletion syndrome;
candidate modifier;
genes immune;
modifier genes ... See more keywords