由NEXMIF突变引起的婴儿:一个病例报告和文献综述
Liuming Zhong1, Caihui Liu1, Liang Lin1
1Department of Internal Medicine-Pediatrics, Meizhou People's Hospital, Meizhou, China.
Applied neuropsychology. Child
|June 14, 2023
概括
婴儿可能与NEXMIF基因有关. 本案例研究表明,使用抗药物成功治疗由NEXMIF突变引起的婴儿.
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:
- 婴儿是一种罕见的神经发育性综合征.
- 在X染色体上的NEXMIF基因 (KIDLIA,KIAA2022,Xpn) 有关.
- 尼克斯米夫的生物功能在很大程度上是未知的.
结论:
- 这项研究呈现了一种罕见的与NEXMIF突变相关的婴儿的病例.
- 成功的治疗突出了这种病例的潜在治疗策略.
- 进一步研究NEXMIF在神经发育中的作用是有必要的.
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