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Updated: Sep 17, 2025

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多种基因组技术验证了罕见的新型变异,并在血管异常时直接提供医疗护理

Luciana Daniela Garlisi Torales1, Kristina Woodis1, Allison Britt2

  • 1Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

American journal of medical genetics. Part A
|July 4, 2025
PubMed
概括

基因检测对于区分PTEN hamartoma瘤综合征 (PHTS) 和纤维脂肪血管异常 (FAVA) 是至关重要的. 这一案例凸显了重复基因分析和先进测序对于准确诊断和癌症风险评估的重要性.

关键词:
PTEN hamartomaoma 的一个地方.纤维质血管异常 (FAVA) 的情况这是西洛利斯 ( sirolimus).身体上的马赛克主义.血管形是因为血管形.

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