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Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome
BACKGROUND: Marfan syndrome (MFS) is a dominant monogenic disorder caused by mutations in fibrillin 1 (FBN1). Rarely, compound heterozygosity for FBN1 mutations has been described. METHODS: A large kindred with MFS was assessed clinically over decades, and genetically using exome and/or Sanger seque...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057098/ https://ncbi.nlm.nih.gov/pubmed/31950671 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1116 |
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