病例报告:新生殖系c.587delA病原变体在家族多重内分泌瘤1型中的新生殖系
Haotian Huang1, Jianwei Li2, Kun Zhang3
1School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Frontiers in endocrinology
|October 7, 2024
概括
这项研究报告了一种新的MEN1基因变异,c.587delA,在年轻男性中引起多发性内分泌新陈代谢1型 (MEN1) 综合征. 患有相同变异的家庭成员表现出各种症状,突出显示了遗传预期.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 内分泌学 在内分泌学.
- 分子生物学分子生物学
背景情况:
- 多发性内分泌新陈代谢1型 (MEN1) 是一种罕见的遗传疾病.
- MEN1是由MEN1基因的致病突变引起的,该突变影响了menin瘤抑制蛋白的表达.
- 内分泌系统的病变是MEN1的特征1.
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