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机译:p.Ser36Tyr新型NFKBIA突变引起的具有免疫缺陷的常染色体显性遗传性胚芽皮表皮发育不良,表现为轻度胚芽皮发育不良和非感染性系统性炎症
Department of Pediatrics Graduate School of Medicine Kyoto University">(1);
Department of Pediatrics Graduate School of Medicine Kyoto University">(1);
Department of Pediatric Hematology and Oncology Osaka City General Hospital">(2);
Department of Pediatric Hematology and Oncology Osaka City General Hospital">(2);
Department of Developmental Medicine Graduate School of Medicine Osaka University">(3);
Department of Pediatrics Graduate School of Medicine Kyoto University">(1);
Department of Pediatrics Graduate School of Medicine Kyoto University">(1);
Department of Pediatrics Graduate School of Medicine Kyoto University">(1);
Department of Pediatrics Graduate School of Medicine Kyoto University">(1);
Department of Pediatrics Graduate School of Medicine Gifu University">(4);
Department of Pediatrics Graduate School of Medicine Kyoto University">(1);
Department of Clinical Application Center for iPS Cell Research and Application Kyoto University">(5);
Department of Pediatrics Graduate School of Medicine Kyoto University">(1);
机译:由新的NFKBIA突变p.Ser36Tyr引起的常染色体显性无汗外胚层发育不良伴免疫缺陷,表现为轻度外胚层发育不良和非感染性全身性炎症
机译:IKBA S32突变面临异位异常发育不良,具有免疫缺陷和严重的无排感全身炎症
机译:鉴定EDAR基因中导致常染色体显性遗传不足的外胚层发育异常的新型移码突变
机译:儿童中颌骨植入物在anhidrotic encerodermal dysplasia:案例报告
机译:外胚层发育不良(ED)和非综合征人群的齿龈发育不足的表型表征和候选基因分型
机译:与IκBα突变有关 常染色体显性无汗外胚层发育不良和T细胞 免疫缺陷
机译:Ikappa Bα超变与常染色体显性无汗外胚层发育不良和T细胞免疫缺陷有关