An Enormous Italian Pedigree of Marfan Syndrome with a Novel Mutation in the FBN1 Gene

Overview

Journal Clin Case Rep

Date 2020 Sep 5

PMID 32884772

Citations 2

Authors

Omid Daneshjoo

Leila B Salehi

Antonio Pizzuti

Giuseppe Novelli

Federica Sangiuolo

Affiliations

Soon will be listed here.

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 identify other genetic factors that influence MFS manifestation.

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PMID: 35598970 PMC: 9334321. DOI: 10.1262/jrd.2022-027.

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

Daneshjoo O, Salehi L, Pizzuti A, Novelli G, Sangiuolo F Clin Case Rep. 2020; 8(8):1445-1451.

PMID: 32884772 PMC: 7455403. DOI: 10.1002/ccr3.2881.

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