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Updated: Sep 9, 2025

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儿科患者发育性脑病:来自新型SULT4A1的见解和遗传挑战

Mohammad Bdair1, Orabi Hajjeh1, Muhammad Takhman1

  • 1Department of Medicine, Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.

Journal of child neurology
|August 29, 2025
PubMed
概括

在患有发育性脑病变 (DEE) 的儿童中,全外体测序发现了一种新型SULT4A1变异. 这种基因突变表明表达能力可变,影响罕见神经发育障碍的诊断和治疗.

关键词:
一个NMDA受体时间表:发育性性脑病变 (DEE)拼接地点的变种整体外因子测序 (WES)

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