与ARF3基因相关的神经发育障碍:一个病例报告
Suelen Dos Santos Henrique1, Mariana Jordão França2, Rui Carlos Silva Junior1
1Pediatric Neurology Department, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil.
American journal of medical genetics. Part A
|May 7, 2024
概括
一种罕见的ARF3基因变异导致获得的小头症,全球发育迟缓和耐药性. 这一案例突出了ARF3相关疾病,一种高尔基病,以及其独特的大脑异常.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 发展生物学 发展生物学
背景情况:
- ARF3基因与罕见的神经发育障碍有关.
- 戈尔吉帕蒂症代表了一组影响细胞贩运和发育的疾病.
- 了解对大脑形的遗传贡献对于诊断至关重要.
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