Articles with "effects 22q13" as a keyword



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Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

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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… read more here.

Keywords: position effects; position; candidate genes; effects 22q13 ... See more keywords