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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8259982/
https://www.ncbi.nlm.nih.gov/pubmed/34228749
http://dx.doi.org/10.1371/journal.pone.0253859

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8259982/
https://www.ncbi.nlm.nih.gov/pubmed/34228749
http://dx.doi.org/10.1371/journal.pone.0253859

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