两名患有GNB1变异的患者的非典型临床过程,他们患有急性脑病变
Megumi Tsuji1, Azusa Ikeda2, Yu Tsuyusaki2
1Department of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama 232-8555, Japan; Institution for Children with Profound Multiple Disabilities, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama 232-8555, Japan.
GNB1基因变异可能导致严重的神经问题. 两名患有GNB1变异的患者经历了急性脑病变和严重的神经后果,突出了需要仔细观察和多学科治疗的需要.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- GNB1基因变异与精神运动迟缓和中枢神经系统异常有关.
- 之前的报道没有详细说明与GNB1变异相关的严重神经后果.
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