Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
利用靶向基因检测组进行先天性垂体功能减退症的基因诊断:GLI2、OTX2 和 GHRHR 中的新型致病变异
期刊:Endocrine Connections
影响因子:2.8
doi:10.1530/EC-19-0085
Nakaguma, Marilena; Correa, Fernanda A; Santana, Lucas S; Benedetti, Anna F F; Perez, Ricardo V; Huayllas, Martha K P; Miras, Mirta B; Funari, Mariana F A; Lerario, Antonio M; Mendonca, Berenice B; Carvalho, Luciani R S; Jorge, Alexander A L; Arnhold, Ivo J P