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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-08-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.2881 |