Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria

Abstract Marfan syndrome (MFS) is a genetic disorder caused by an FBN1 variant and is diagnosed based on the revised Ghent criteria, which incorporate clinical manifestations and genetic testing. Up-to-date FBN1 variant interpretation is crucial for proper diagnosis and management of MFS; however, s...

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主要な著者: Ju Hyeon Shin, Young‐Gon Kim, Shin Yi Jang, June Huh, Duk‐Kyung Kim, Jong‐Won Kim, Ja‐Hyun Jang, Taek Kyu Park, Mi‐Ae Jang
フォーマット: Artigo
言語:英語
出版事項: 2025
オンライン・アクセス:https://doi.org/10.1038/s41431-025-01826-9
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