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机译:在Wwox基因的SDR结构域中的一种新的畸形变体导致Wwox蛋白的损失,具有早起的癫痫脑病和严重发育延迟
Department of Pediatrics University Medical Center Hamburg-Eppendorf;
Institute of Human Genetics University Medical Center Hamburg-Eppendorf;
Institute of Human Genetics University Medical Center Hamburg-Eppendorf;
Institute of Clinical Pharmacology University Medical Center G?ttingen;
Clinic of Radiotherapy and Radiation Oncology University Medical Center G?ttingen;
Department of Pediatrics University Medical Center Hamburg-Eppendorf;
Department of Pediatrics University Medical Center Hamburg-Eppendorf;
WWOXgene; WWOX protein; Missense variant; Protein loss; Epileptic encephalopathy;
机译:在Wwox基因的SDR结构域中的一种新的畸形变体导致Wwox蛋白的损失,具有早起的癫痫脑病和严重发育延迟
机译:西综合征,发育和癫痫脑病,以及与WWOX WWOX突变相关的严重CNS障碍
机译:由新型化合物杂合突变的Wwox Wwox基因引起的早期发病脑病
机译:FHF2 / FGF13同种型N-末端结构域中的畸形变体导致X型发育和癫痫脑病
机译:与新型复合杂合子致病性变体相关的严重早期发育发育和癫痫脑病(DEE)在SLC25A22中有关:病例报告和文献综述