Psychiatric illness and regression in individuals with Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deletions or mutations affecting SHANK3, which codes for a critical scaffolding protein in excita...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | inglés |
| Publicado: |
2020
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| Acceso en línea: | https://doi.org/10.1186/s11689-020-9309-6 https://jneurodevdisorders.biomedcentral.com/track/pdf/10.1186/s11689-020-9309-6 |
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