从预测的致病性FBN1变体在gnomAD队列中开发出一个更准确的马方综合征的人口频率

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Updated: May 21, 2025

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K Choi1, M Huang1, J Savige2

  • 1Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3052, Australia.

Scientific reports
|March 19, 2025
PubMed
概括

由Fibrillin 1 (FBN1) 基因变异引起的Marfan综合征比以前想象的更为常见,大约影响416个人中的1人. 意识对于早期诊断和相关心脏风险的管理至关重要,特别是在较轻的病例中.

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