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Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance
Marfan syndrome (MFS, OMIM: 154700) is a heritable multisystemic disease characterized by a wide range of clinical manifestations. The underlying molecular defect is caused by variants in the FBN1. Meanwhile, FBN1 variants are also detected in a spectrum of connective tissue disorders collectively t...
| 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/PMC9514320/ https://www.ncbi.nlm.nih.gov/pubmed/36176293 http://dx.doi.org/10.3389/fgene.2022.943083 |