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Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.
Landlust AM, Koza SA, Carbin M, Walinga M, Robert S, Cooke J, Vyshka K; European Phelan-McDermid syndrome consortium; van Balkom IDC, van Ravenswaaij-Arts C. Landlust AM, et al. Among authors: koza sa. Eur J Med Genet. 2023 Jul;66(7):104771. doi: 10.1016/j.ejmg.2023.104771. Epub 2023 Apr 28. Eur J Med Genet. 2023. PMID: 37120079 Free article.
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium; Evans DG, van Ravenswaaij-Arts CMA, Kant SG. Koza SA, et al. Eur J Med Genet. 2023 Jul;66(7):104773. doi: 10.1016/j.ejmg.2023.104773. Epub 2023 Apr 28. Eur J Med Genet. 2023. PMID: 37120077 Free article. Review.
16 results