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A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report
BACKGROUND: Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this study, we found a heterozygous c.3217G > T (p.Glu1073*) nonsense variant i...
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| Publicat a: | BMC Med Genet |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7579915/ https://ncbi.nlm.nih.gov/pubmed/33087052 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01148-1 |
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