An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
意大利马凡氏综合征患者谱系庞大，FBN1 基因出现新突变
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作者：Omid Daneshjoo, Leila B Salehi, Antonio Pizzuti, Giuseppe Novelli, Federica Sangiuolo
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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