由于KRIT1类基因突变而导致大脑洞腔形的患者的复杂失自性
Roel Janssen1, Maxime Ariëns2, Jessie van Genugten3
1Faculty of Health, Medicine, and Life Sciences, Maastricht University, Maastricht, NLD.
Cureus
|March 1, 2024
概括
失自,自主过程的破坏,显著影响生活质量. 一个KRIT1突变病例突出了突洞性形作为这种复杂疾病的潜在原因.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 血管形症 血管形症
背景情况:
- 脱自主症涉及自主神经系统功能障碍,导致影响多个器官系统的多种症状.
- 由于其复杂的表现,早期诊断脱机症具有挑战性,但对于患者的治疗结果至关重要.
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