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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...

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Detalles Bibliográficos
Autores principales:	Chen, Ze-Xu, Jia, Wan-Nan, Jiang, Yong-Xiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
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

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