多面性初级状动脉功能障碍症-A病例报告
Dinnar Yahya1,2, Miroslava Benkova-Petrova3,4, Aleksandar Petrov3,4
1Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria.
Reports (MDPI)
|July 29, 2025
概括
纤毛病,影响纤毛的疾病,呈现各种症状,并可能导致诊断延迟. 这一案例突出显示了一种罕见的RSPH3基因变异导致初级状动力障碍,强调基因测试用于准确诊断.
科学领域:
- 医学遗传学 医学遗传学
- 罕见疾病 罕见疾病
- 乳生物学的生物学
背景情况:
- 纤毛病是一种多样化的遗传性疾病群体,源于初级纤毛功能障碍.
- 症状范围从不孕不育和肺部感染到脏疾病,如多囊性脏病.
- 遗传和临床异质性往往使诊断复杂化,需要先进的遗传测试.
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