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Updated: Aug 1, 2026

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通过多基因面板测试进行下一代测序,用于诊断患有非典型可卡因综合征的中国患者

Xinyi Wang1,2, Yue Li3, Anqi Zhao1,2

  • 1Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Molecular genetics & genomic medicine
|August 18, 2023
PubMed
概括

卡凯恩综合征 (CS) 是一种罕见的遗传性疾病. 下一代测序对于诊断非典型的CS病例至关重要,能够提供准确的遗传咨询.

关键词:
卡卡恩综合征是什么意思在ERCC8中,ERCC8是ERCC8的成员之一.微切除微切除的方法光敏感性 光敏感性过早的衰老过早的衰老

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