Lianlian Yang1,2, Guang Yang3, Hui Guo1,2

  • 1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China.

Nephrology (Carlton, Vic.)
|September 27, 2024
PubMed
概括

这项研究报告了阿尔波特综合征和脂蛋白质结晶病同时发生在一个11岁女孩的第一个病例. 通过脏活检和全外因组测序进行早期诊断对于管理这些罕见的遗传性脏疾病至关重要.

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