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

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author: Joseph Buxbaum  Alexander Kolevzon  Reymundo Lozano  Yitzchak Frank  Maria Del Pilar Trelles  Danielle Halpern  A Ting Wang  Jordana Weissman  Paige M Siper  Allison Durkin  Catalina Betancur  Jimmy Holder  Silvia De Rubeis 

Publication date April 27, 2018
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