揭开Shimmelpenning-Feuerstein-Mims综合征的复杂性:一个全面的案例研究
Guillermo Raul Vera-Duarte1, Ruth Eskenazi-Betech1, Isabel De la Fuente-Batta1
1Department of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
American journal of ophthalmology case reports
|April 28, 2025
概括
这项研究详细介绍了一名患有Schimmelpenning-Feuerstein-Mims综合征 (SFMS) 的患者,重点关注眼皮特征. 早期诊断和多学科护理对于管理这种罕见的遗传疾病至关重要.
科学领域:
- 遗传学和分子生物学
- 皮肤病学 皮肤病学
- 眼科医生 眼科 眼科
背景情况:
- 施密尔宁-费尔斯坦-米姆斯综合征 (SFMS) 是一种罕见的发病.
- 它的特征是脂质瘤和神经外皮异常.
- 通常是由RAS信号通路基因 (HRAS,NRAS,KRAS) 的后异位突变引起的.
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