10q26 deletion syndrome: a French cohort study

Autor: Thorn, Hugo, Odent, Sylvie, Levy, Jonathan, Tabet, Anne-Claude, Thevenon, Julien, Caignec, Cedric Le, Schaefer, Elise, Frebourg, Thierry, Schluth-Bolard, Caroline, Plutino, Morgane, Chehadeh, Salima El, Philippe, Anais, Scheidecker, Sophie, Calmels, Nadege, Schalk, Audrey, Goldenberg, Alice, Guerot, Anne-Marie, Meur, Nathalie Le, Cassinari, Kevin, Ruaud, Lyse, Rachid, Myriam, Januel, Louis, Bonnet-Dupeyron, Marie-Noëlle, Carneiro, Maryline, Bieth, Eric, Plaisancie, Julie, Coutton, Charles, Harbuz, Radu, Dieterich, Klaus, Nadeau, Gwenaël, Vieville, Gaelle, Fradin, Melanie, Poirsier, Celine, Spodenkiewicz, Marta, Landais, Emilie, Doco-Fenzy, Martine

Publikováno v: Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters. Eur J Hum Genet 30, 88–608 (2022).
54th European Society of Human Genetics (ESHG) Conference
54th European Society of Human Genetics (ESHG) Conference, Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324
54th European Society of Human Genetics (ESHG) Conference, Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324, ⟨10.1038/s41431-021-01026-1⟩

International audience; 10q26 deletion syndrome (OMIM #609625) is a rare autosomal dominant genetic disorder with about 100 patients reported. Most cases are sporadic. Global development delay, short stature, microcephaly and typical facial appearanc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9eea99fba0a8225c303ee69fca02d7ad
https://hal.science/hal-03693284