We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same :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.
Daneshjoo, O., Salehi, L., Pizzuti, A., Novelli, G., Sangiuolo, F. (2020). An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene. CLINICAL CASE REPORTS, 8(8), 1445-1451 [10.1002/ccr3.2881].
An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
Novelli, G;Sangiuolo, F
2020-01-01
Abstract
We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same :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.File in questo prodotto:
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