Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the <i>FBN1</i> Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the <i>FBN1</i> Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

Marfan syndrome (MFS) is a hereditary connective tissue disease whose clinical severity varies widely. Mutations of the <i>FBN1</i> gene encoding fibrillin-1 are the most common genetic cause of Marfanoid habitus; however, about 10% of MFS patients are unaware of their genetic defects. H...

Full description

Bibliographic Details
Main Authors: Kyung Hwa Kim, Tae Yun Kim, Soon Jin Kim, Yong Gon Cho, Joonhong Park, Woori Jang
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
targeted panel sequencing
intronic variant
c.5225-3C>G
<i>FBN1</i> gene
Marfan syndrome
annuloaortic ectasia
Online Access:https://www.mdpi.com/2073-4425/13/11/2108

Internet

https://www.mdpi.com/2073-4425/13/11/2108

Similar Items