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

BACKGROUND: Marfan syndrome (MFS) is an autosomal dominant multisystem connective tissue disorder with increased risk of aortopathy with a high risk of subsequent life-threatening aortic dissection. Diagnosing this condition is reliant on recognizing clinical features and genetic testing for confirm...

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Detalles Bibliográficos
Autores principales: Suliman, Asem, Yan, Weiang, Yamashita, Michael H, Krentz, Anthony D, Mhanni, Aizeddin, Garber, Philip J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Grand Round
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972828/
https://www.ncbi.nlm.nih.gov/pubmed/35372756
http://dx.doi.org/10.1093/ehjcr/ytac063

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972828/
https://www.ncbi.nlm.nih.gov/pubmed/35372756
http://dx.doi.org/10.1093/ehjcr/ytac063

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