Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

@inproceedings{Rubeis2018DelineationOT,
  title={Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations},
  author={Silvia De Rubeis and Paige M Siper and Allison Durkin and Jordana Weissman and François Muratet and Danielle Halpern and Maria Del Pilar Trelles and Yitzchak Frank and Reymundo Lozano and A Ting Wang and J Lloyd Holder and Catalina Betancur and Joseph D. Buxbaum and Alexander Kolevzon},
  booktitle={Molecular autism},
  year={2018}
}
Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking… CONTINUE READING
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