在梅因泽-萨尔迪诺综合征中IFT140突变和末期病:一个病例报告
Sara E Marhoon1, Ali H Ali1, Ali Husain1
1College of Medicine, Mansoura University, Mansoura, EGY.
Cureus
|March 11, 2024
概括
梅恩泽-萨尔迪诺综合征 (MSS) 是一种罕见的纤毛病,可能伴有脏疾病. 基因检测对于诊断MSS至关重要,即使怀疑其他疾病.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 腎臟病學 (nephrology) 是一種醫學.
背景情况:
- 梅恩泽-萨尔迪诺综合征 (MSS),也称为冠状病毒综合征 (CRS),是一种罕见的自体逆向性纤毛病.
- 它通常表现为神经炎 (NPHP),视网膜色素炎 (RP) 和圆形形 (CSE).
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