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

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 delet...

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Vydáno v:PLoS One
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2021
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8259982/
https://ncbi.nlm.nih.gov/pubmed/34228749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0253859
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