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一个患有初综合征的婴儿:一个案例报告

Calista Long1, Barry DeRose2, Anthony B Lal3

  • 1Pediatrics, Penn State College of Medicine, Hershey, USA.

Cureus
|November 6, 2023
PubMed
概括

普林综合征是一种罕见的遗传性疾病,表现为明显的面部特征,听力损失和发育迟缓. 早期诊断是管理这种由ZBTB20基因变异引起的疾病的关键.

关键词:
自体主导遗传障碍 自体主导遗传障碍体质体的产生发生.智力障碍 (id) 是指智力障碍 (id) 是指智力障碍.宏观头脑症是什么意思产前检测 产前检测产前遗传检测是产前遗传检测的一种方式.普林罗斯综合征是什么意思罕见的遗传疾病 罕见的遗传疾病

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