A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.

Asem Suliman Weiang Yan Michael H YamashitaAnthony D KrentzAizeddin A Mhanni Philip J Garber

Published in: European heart journal. Case reports (2022)

The discovery of a new pathogenic gene will expand the current aortopathy and MFS database and may lead to more informed clinical management decisions for the timing and nature of interventions.

Keyphrases

copy number
genome wide
genome wide identification
aortic valve
small molecule
physical activity
high throughput
emergency department
case report
genome wide analysis