Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report
俄罗斯女性癫痫伴智力障碍患者中发现两例新的PCDH19基因突变:病例报告
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-020-01119-6
Kozina, Anastasiya Aleksandrovna; Okuneva, Elena Grigorievna; Baryshnikova, Natalia Vladimirovna; Fedonyuk, Inessa Dmitrievna; Kholin, Alexey Aleksandrovich; Il'ina, Elena Stepanovna; Krasnenko, Anna Yurievna; Stetsenko, Ivan Fedorovich; Plotnikov, Nikolay Alekseevich; Klimchuk, Olesia Igorevna; Surkova, Ekaterina Ivanovna; Ilinsky, Valery Vladimirovich