与HECW2相关的发育和脑病变的快速电临床演变:关于可能发生的家族传播变异的报告

Sergio Melgarejo1, Gabriela Reyes Valenzuela1, Matías Juanes2

  • 1Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

概括

这项研究详细介绍了患有罕见,进展性神经发育障碍的婴儿的新型HECW2基因变异. 这些发现扩大了已知的HECW2基因谱,并突出了个性化的治疗.

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