在德拉维特综合征中进行基因检测的时间:趋势,障碍和改进机会

Ross A Carson1,2, John E Maldonado Pacheco1,3,4, Christina Briscoe Abath1

  • 1Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Epilepsia
|October 3, 2025
PubMed
概括

德拉维特综合征 (DS) 遗传检测的延迟与缺乏早期状态和需要英语翻译有关. 解决这些因素可以改善DS患者的早期和公平诊断.

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