Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism

BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the SHANK3 gene. To date, the molecular and pathway changes resulting from SHANK3 ha...

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Detalles Bibliográficos
Autores principales: Breen, Michael S., Browne, Andrew, Hoffman, Gabriel E., Stathopoulos, Sofia, Brennand, Kristen, Buxbaum, Joseph D., Drapeau, Elodie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304190/
https://www.ncbi.nlm.nih.gov/pubmed/32560742
http://dx.doi.org/10.1186/s13229-020-00355-0

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