Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

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Authors: Sylvia A. Koza, Anne C. Tabet, Maria C. Bonaglia, Stephanie Andres, Britt-Marie. Anderlid, Emmelien Aten, Dominique Stiefsohn, D. Gareth Evans, Conny M.A. van Ravenswaaij-Arts, Sarina G. Kant

Journal title: European Journal of Medical Genetics

Journal number: 66

Journal publisher: Elsevier BV

Published year: 2023

Published pages: 104773

DOI identifier: 10.1016/j.ejmg.2023.104773

ISSN: 1769-7212