An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

Abstract We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872‐1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could iden...

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Bibliographic Details
Main Authors: Omid Daneshjoo, Leila B. Salehi, Antonio Pizzuti, Giuseppe Novelli, Federica Sangiuolo
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Clinical Case Reports
Subjects:
FBN1
Marfan syndrome
mutation
NGS
Online Access:https://doi.org/10.1002/ccr3.2881

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