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Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families
BACKGROUND: To explore the genetic defects of two families with autosomal dominant Marfan syndrome (MFS). METHODS: Two families with MFS were enrolled in this study. The detailed ocular presentations of the patients were recorded. Whole exome sequencing was performed to explore the pathogenic varian...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792469/ https://www.ncbi.nlm.nih.gov/pubmed/36582279 http://dx.doi.org/10.3389/fmed.2022.1086844 |