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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| Autori principali: | , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Lodz University Press
2023-12-01
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| Serie: | Anthropological Review |
| Soggetti: | |
| Accesso online: | https://czasopisma.uni.lodz.pl/ar/article/view/19854 |
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