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在多重内分泌新陈代谢综合征中的潜在遗传查

Diana Paun1,2, Dana Tilici1, Sorin Paun1,3

  • 1The Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.

Children (Basel, Switzerland)
|August 29, 2024
PubMed
概括

早期诊断罕见的多重内分泌新陈代谢 (MEN) 综合征对于预防致命结果至关重要. 本综述强调了关键的临床概念,并强调了儿童查,以便及时识别和管理MEN.

关键词:
早期诊断 早期诊断 早期诊断基因查 基因查 基因查多重内分泌瘤综合征多种内分泌瘤综合征.查检查 查检查 查检查 查检查

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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