A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature
一例伴有弥漫性甲状腺疾病的中国女性SHORT综合征患者的新型PIK3R1基因突变:病例报告及文献复习
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-020-01146-3
Sun, Liying; Zhang, Qianwen; Li, Qun; Tang, Yijun; Wang, Yirou; Li, Xin; Li, Niu; Wang, Jian; Wang, Xiumin