Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13.3. SHANK3, which is located at the terminal end of this...

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Publicado en:PLoS One
Autores principales: Ziats, Catherine A., Grosvenor, Luke P., Sarasua, Sara M., Thurm, Audrey E., Swedo, Susan E., Mahfouz, Ahmed, Rennert, Owen M., Ziats, Mark N.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2019
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6420160/
https://ncbi.nlm.nih.gov/pubmed/30875393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0213921
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