Cargando…
An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
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 othe...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455403/ https://www.ncbi.nlm.nih.gov/pubmed/32884772 http://dx.doi.org/10.1002/ccr3.2881 |