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CDKL5 缺乏症和其他婴儿发病的遗传性

Carolyn Daniels1, Caitlin Greene1, Lacey Smith1

  • 1Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

Developmental medicine and child neurology
|September 29, 2023
PubMed
概括

CDKL5缺乏症 (CDD) 呈现出明显的特征,如耐治疗性和发育性脑病变. 识别这些核心特征有助于准确诊断和针对性治疗婴儿发作的.

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