Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 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 FBN1 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. Herein, we report a...

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Detalles Bibliográficos
Autores principales: Kim, Kyung Hwa, Kim, Tae Yun, Kim, Soon Jin, Cho, Yong Gon, Park, Joonhong, Jang, Woori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690865/
https://www.ncbi.nlm.nih.gov/pubmed/36421783
http://dx.doi.org/10.3390/genes13112108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690865/
https://www.ncbi.nlm.nih.gov/pubmed/36421783
http://dx.doi.org/10.3390/genes13112108

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