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产前胎儿神经皮肤黑色素瘤:一个病例报告和文献综述

Xue Zhao1, Jing Wang1, Juan Song1

  • 1Department of Obstetrics and Gynecology, Peking University International Hospital, Beijing, China.

Molecular genetics & genomic medicine
|December 31, 2025
PubMed
概括

这项研究报告了一种罕见的产前神经皮肤色素病 (NCM) 病例,通过胎儿检查诊断出来. 遗传测试没有确定已知的致病突变,突出显示了对NCM的先进诊断方法的需求.

关键词:
案例报告案例报告小脑半球中的小脑半球神经皮肤性黑色素质病.产前诊断 产前诊断 产前诊断

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