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MFAP5变体诱导的多重巨型胸前大动脉动脉瘤

Yuxi Jin1, Tiange Li1,2, Shaoying Wu3

  • 1Department of Pediatrics, Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, West China Second University Hospital, Sichuan University, Chengdu, SC, China.

Cardiology in the young
|November 30, 2023
PubMed
概括

在一个患有遗传性胸前大动脉动脉瘤的青少年身上,发现了MFAP5基因的新型遗传变异. 这一发现强调了早期诊断和管理这种危及生命的疾病的基因查.

关键词:
遗传性胸前大动脉动脉瘤是可以遗传的.在MFAP5中,MFAP5是MFAP5中的一个.案例报告案例报告整体外因子测序的测序

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