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An FBN1 Deep Intronic Variant is Associated with Pseudoexon Formation and a Variable Marfan Phenotype in a Five Generation Family

Dong-chuan Guo,Xueyan Duan, Kathleen Mimnagh,Alana C. Cecchi,Isabella C. Marin, Yang Yu, Walter V. Torres,Kwanghyuk Lee, Xue Zhu,David R. Murdock,Suzanne M. Leal,Marsha M. Wheeler,Josh Smith,Michael J. Bamshad,Dianna M. Milewicz

CLINICAL GENETICS（2023）

引用 3|浏览42
关键词
FBN1,heritable thoracic aortic disease,Marfan syndrome,pseudoexon
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