机译:PHF21A中的DE Novo截断变体导致智力残疾和颅面异常。
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Pediatrics Soka Municipal Hospital Soka Saitama;
Department of Neurosurgery Okinawa Pref. Nanbu Medical Center and Children's Medical Center;
Department of Medical Genetics Haukeland University Hospital Bergen;
Department of Pediatrics Showa University School of Medicine Tokyo;
Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Shizuoka;
Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Shizuoka;
Laboratory for Neurogenetics RIKEN Center for Brain Science Wako Saitama;
Laboratory for Neurogenetics RIKEN Center for Brain Science Wako Saitama;
Department of Medical Genetics Haukeland University Hospital Bergen;
Department of Medical Genetics Haukeland University Hospital Bergen;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama;
机译:PHF21A中的DE Novo截断变体导致智力残疾和颅面异常。
机译:PHF21A的破坏导致综合征智力残疾,患有颅面异常,癫痫,低呼吸道和神经疾病,包括自闭症
机译:Potocki-Shaffer综合征区域中破坏PHF21A的易位与智力障碍和颅面异常有关
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机译:智能疾病和自闭症谱系血型术中的常染色体隐性变体
机译:PHF21A中的从头截短变体会导致智力残疾和颅面异常
机译:破坏potocki-shaffer综合征区pHF21a的易位与智力残疾和颅面畸形有关。