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Published in 2021 at "PLoS ONE"
DOI: 10.1371/journal.pone.0253859
Abstract: Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities…
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Keywords:
position effects;
position;
candidate genes;
effects 22q13 ... See more keywords