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Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia

Phelan–McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder caused by 22q13 region deletions or SHANK3 gene variants. Deletions vary in size and can affect other genes in addition to SHANK3. PMS is characterized by autism spectrum disorder (ASD), intellectual disability (ID), develo...

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Detalles Bibliográficos
Autores principales: Shah, Snehal, Sarasua, Sara M., Boccuto, Luigi, Dean, Brian C., Wang, Liangjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671420/
https://www.ncbi.nlm.nih.gov/pubmed/38002941
http://dx.doi.org/10.3390/genes14111998