Article
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
PloS one - 1 Jan 2021
Srikanth Sujata, Jain Lavanya, Zepeda-Mendoza Cinthya, Cascio Lauren, Jones Kelly, Pauly Rini, DuPont Barb, Rogers Curtis, Sarasua Sara, Phelan Katy, Morton Cynthia, Boccuto Luigi
Abstract excerpt
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 (e.g., terminal or interstitial deletions, translocations, ring chromosomes, or SHANK3 variants). Position effects have been shown to affect gene...
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