Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Juven, AurÃ©lien; Nambot, Sophie; Piton, AmÃ©lie; Jean-MarÃ§ais, Nolwenn; Masurel, Alice; Callier, Patrick; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Kuentz, Paul; Philippe, Christophe; Chevarin, Martin; Duffourd, Yannis; Gautier, Elodie; Munnich, Arnold; Rio, MarlÃ¨ne; Rondeau, Sophie; El Chehadeh, Salima; Schaefer, Ãlise; GÃ©rard, BÃ©nÃ©dicte; Bouquillon, Sonia; Delorme, Catherine Vincent; Francannet, Christine; Laffargue, Fanny; Gouas, Laetitia; Isidor, Bertrand; Vincent, Marie; Blesson, Sophie; Giuliano, Fabienne; Pichon, Olivier; Le Caignec, CÃ©dric; Journel, Hubert; Perrin-Sabourin, Laurence; Fabre-Teste, Jennifer; Martin, Dominique; Vieville, Gaelle; Dieterich, Klaus; Lacombe, Didier; DenommÃ©-Pichon, Anne-Sophie; Thauvin-Robinet, Christel; Faivre, Laurence

期刊名称European Journal of Human Genetics
作者Juven, AurÃ©lien; Nambot, Sophie; Piton, AmÃ©lie; Jean-MarÃ§ais, Nolwenn; Masurel, Alice; Callier, Patrick; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Kuentz, Paul; Philippe, Christophe; Chevarin, Martin; Duffourd, Yannis; Gautier, Elodie; Munnich, Arnold; Rio, MarlÃ¨ne; Rondeau, Sophie; El Chehadeh, Salima; Schaefer, Ãlise; GÃ©rard, BÃ©nÃ©dicte; Bouquillon, Sonia; Delorme, Catherine Vincent; Francannet, Christine; Laffargue, Fanny; Gouas, Laetitia; Isidor, Bertrand; Vincent, Marie; Blesson, Sophie; Giuliano, Fabienne; Pichon, Olivier; Le Caignec, CÃ©dric; Journel, Hubert; Perrin-Sabourin, Laurence; Fabre-Teste, Jennifer; Martin, Dominique; Vieville, Gaelle; Dieterich, Klaus; Lacombe, Didier; DenommÃ©-Pichon, Anne-Sophie; Thauvin-Robinet, Christel; Faivre, Laurence
印刷ISSN1018-4813
电子ISSN1476-5438
文件大小2175.53KB
发表时间2020-2-18
DOI10.1038/s41431-020-0582-3

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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20