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...

全面介紹

Saved in:
書目詳細資料
Main Authors: Teresa M. Kohlenberg, M. Pilar Trelles, Brittany McLarney, Catalina Betancur, Audrey Thurm, Alexander Kolevzon
格式: Artigo
語言:英语
出版: 2020
在線閱讀:https://doi.org/10.1186/s11689-020-9309-6
https://jneurodevdisorders.biomedcentral.com/track/pdf/10.1186/s11689-020-9309-6
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!