High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis
针对先天性甲状腺激素合成障碍所致甲状腺功能减退症患者队列的靶向二代测序具有较高的诊断率
期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2020.545339
Stoupa, Athanasia; Al Hage Chehade, Ghada; Chaabane, Rim; Kariyawasam, Dulanjalee; Szinnai, Gabor; Hanein, Sylvain; Bole-Feysot, Christine; Fourrage, Cécile; Nitschke, Patrick; Thalassinos, Caroline; Pinto, Graziella; Mnif, Mouna; Baron, Sabine; De Kerdanet, Marc; Reynaud, Rachel; Barat, Pascal; Hachicha, Mongia; Belguith, Neila; Polak, Michel; Carré, Aurore