Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

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Authors: Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij-Arts, Raoul C. Hennekam

Journal title: European Journal of Medical Genetics

Journal number: 66

Journal publisher: Elsevier BV

Published year: 2023

Published pages: 104754

DOI identifier: 10.1016/j.ejmg.2023.104754

ISSN: 1769-7212