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Updated: Sep 16, 2025

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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与ERCC5突变相关的临床谱:表型和基因型之间是否存在关系?

Jinpeng Zhang1, Jiannan Ma2, Yuanyuan Luo2

  • 1Department of Infection Children's Hospital of Chongqing Medical University National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity Chongqing China.

Pediatric discovery..
|July 8, 2025
PubMed
概括

在ERCC5基因的突变导致各种表型,如色素脱皮症 (XP) 和XP/Cockayne综合征 (XP/CS). XP/CS 患者的发育问题和神经系统问题的比率更高,这突显了需要仔细监测的必要性.

关键词:
这就是COFS的原因.卡卡恩综合征是什么意思在ERCC5中,ERCC5是ERCC的第五个成员.黑色皮肤菌 (Xeroderma pigmentosum) 是一种有色素的植物.肝功能损伤是肝功能损伤的原因之一.

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