Morphological and genetic aspects of Marfan Syndrome as demonstrated by a case of death during pregnancy with the discovery of two de novo missense mutations in the FBN1 gene

Marfan Syndrome (MFS) is an autosomal dominant disease caused in most cases by mutations in the FNB1 gene, which encodes for fibrillin 1. MFS does not alway shows typical phenotypic signs. Indeed, the occurrence of sudden death of unknown cause is increasingly seen in young adults without ante morte...

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Principais autores:	Isabella Aquila, Matteo Antonio Sacco, Silvia Boca, Donatella Malanga, Giuseppe Viglietto, Ludovico Abenavoli, Martino Maesani, Elena Varotto, Francesco Maria Galassi, Pietrantonio Ricci
Formato:	Artigo
Idioma:	Inglês
Publicado:	Lodz University Press 2023-12-01
Series:	Anthropological Review
Assuntos:	marfan syndrome genes mutation dissecting aneurysm legal medicine
Acceso en liña:	https://czasopisma.uni.lodz.pl/ar/article/view/19854
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