Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
遗传性GATA2缺陷通过单倍体不足表现为显性遗传,并表现出不完全临床外显率
期刊:Journal of Clinical Immunology
影响因子:7.2
doi:10.1007/s10875-020-00930-3
Carmen Oleaga-Quintas ,Edgar Borges de Oliveira-Júnior # ,Jérémie Rosain # ,Franck Rapaport # ,Caroline Deswarte # ,Antoine Guérin # ,Sairaj Munavar Sajjath # ,Yu Jerry Zhou # ,Stéphane Marot # ,Claire Lozano # ,Lidia Branco ,Nuria Fernández-Hidalgo ,Dukhee Betty Lew ,Anne-Sophie Brunel ,Caroline Thomas ,Elise Launay ,Andrés Augusto Arias ,Alexis Cuffel ,Vanesa Cunill Monjo ,Anna-Lena Neehus ,Laura Marques ,Manon Roynard ,Marcela Moncada-Vélez ,Bengü Gerçeker ,Roger Colobran ,Marie-Gabrielle Vigué ,Gabriela Lopez-Herrera ,Laura Berron-Ruiz ,Nora Hilda Segura Méndez ,Patricia O'Farrill Romanillos ,Tom Le Voyer ,Anne Puel ,Christine Bellanné-Chantelot ,Kacy A Ramirez ,Lazaro Lorenzo-Diaz ,Noé Ramirez Alejo ,Rebeca Pérez de Diego ,Antonio Condino-Neto ,Fethi Mellouli ,Carlos Rodriguez-Gallego ,Torsten Witte ,José Franco Restrepo ,Mariana Jobim ,Stéphanie Boisson-Dupuis ,Eric Jeziorski ,Claire Fieschi ,Guillaume Vogt ,Jean Donadieu ,Marlène Pasquet ,Julia Vasconcelos ,Fatma Omur Ardeniz ,Mónica Martínez-Gallo ,Regis A Campos ,Luiz Fernando Jobim ,Rubén Martínez-Barricarte ,Kang Liu ,Aurélie Cobat # ,Laurent Abel # ,Jean-Laurent Casanova # ,Jacinta Bustamante