与海马缩相关的DHDDS:一个病例报告
Álvaro de Oliveira Franco1,2, Matheus Bernardon Morillos3,4, Martim Tobias Bravo Leite3
1Service of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, 2350 Rua Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil. alvaro.doliveirafranco@gmail.com.
Neurogenetics
|November 22, 2024
概括
一种新的DHDDS基因变异导致了一种罕见的神经发育障碍,伴有发作和运动问题. 治疗改善了患者的流动性和控制.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 罕见疾病 罕见疾病
背景情况:
- 发育迟缓和有或没有运动异常的 (DEDSM) 是一种与DHDDS基因相关的神经发育表型.
- 在DHDDS中单基因突变与这种情况有关.
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