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Updated: Sep 14, 2025

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影响色素的马赛克乱 - 第二部分:如何进行遗传诊断

Veronica A Kinsler1,2,3

  • 1NHS England Rare Disease Collaborative Network for Mosaic Disorders, Paediatric Dermatology department, Great Ormond Street Hospital for Children, London, UK.

The British journal of dermatology
|July 25, 2025
PubMed
概括

引起色素变化的马赛克乱会影响多个器官系统,并可能传给后代. 本综述指导了基因诊断,详细说明了样本采集,变体解释和这些罕见疾病的测试策略.

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