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在CDLK5疾病中的临床和分子异质性

José J Vázquez-Montante1, Paola Márquez-Rojo2, Berenice Saavedra-Milán2

  • 1Departamento de Genética Médica.

Boletin medico del Hospital Infantil de Mexico
|July 25, 2023
PubMed
概括

由CDKL5基因变异引起的CDKL5缺陷综合征,表现出包括自闭症和在内的多种症状. 这项研究强调了三名墨西哥女性患者的临床和分子变异,这些患者患有CDKL5致病变体.

关键词:
在CDKL5中,CDKL5是在CDKL5缺陷障碍中.发育迟缓 发展迟缓耐药性的药物耐药性.脑病症是早期的发性脑病.长期不治的.性脑病变 (Epileptic Encephalopathy) 是一种发生在脑中的疾病.全球神经发育迟缓.在CDKL5缺陷乱中.

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