Article
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
Molecular autism - 1 Jan 2018
De Rubeis Silvia, Siper Paige M, Durkin Allison, Weissman Jordana, Muratet François, Halpern Danielle, Trelles Maria Del Pilar, Frank Yitzchak, Lozano Reymundo, Wang A Ting, Holder J Lloyd, Betancur Catalina, Buxbaum Joseph D, Kolevzon Alexander
Abstract excerpt
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...
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