WHOLE EXOME SEQUENCING IDENTIFIES KNOWN AND UNKNOWN GENES ASSOCIATED WITH MITRAL VALVE PROLAPSE

Aniek Van Wijngaarden,Yasmine L. Hiemstra,Tamara T. Koopmann,Claudia A.L. Ruivenkamp,Emmelien Aten,Jeroen J. Bax,Victoria Delgado,Daniela Q.C.M. Barge-Schaapveld,Nina Ajmone Marsan

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY（2019）

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摘要

Although a familial distribution has been documented, the genetic etiology of mitral valve prolapse (MVP) is largely unknown, with only 3 genes identified so far: FLNA, DCHS1 and PLD1. Patients with MVP were referred for genetic counseling and whole exome sequencing (WES) when reported a family

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