婴儿发作综合征作为一个新的NR2F1基因表型
Yan Liang1,2,3, Lin Wan1,2,3, Xinting Liu1,2,3
1Senior Department of Pediatrics, Seventh Medical Center of PLA General Hospital, Beijing, China.
概括
新的NR2F1基因变异可能导致婴儿发作综合征 (IESS) 和博世-博恩斯特拉-沙夫视力缩综合征 (BBSOAS). 这凸显了需要对受影响儿童进行意识和监测的需要.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 眼科医生 眼科 眼科
背景情况:
- 博世 - 邦斯特拉 - 沙夫视力缩综合征 (BBSOAS) 与NR2F1病原体变异有关.
- BBSOAS呈现出视力障碍,发育迟缓,低血压,薄体和发作.
- 很少报告BBSOAS和婴儿发作综合征 (IESS) 的同时发生.
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