Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

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Authors: Aline Vitrac, Claire S. Leblond, Thomas Rolland, Freddy Cliquet, Alexandre Mathieu, Anna Maruani, Richard Delorme, Michael Schön, Andreas M. Grabrucker, Conny van Ravenswaaij-Arts, Katy Phelan, Anne-Claude Tabet, Thomas Bourgeron

Journal title: European Journal of Medical Genetics

Journal number: 66

Journal publisher: Elsevier BV

Published year: 2023

Published pages: 104732

DOI identifier: 10.1016/j.ejmg.2023.104732

ISSN: 1769-7212