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Undescribed mutations in FBN1 gene in two family cases of Marfan syndrome
Marfan syndrome (MFS) is a multisystem autosomal dominant heritable disorder and, although there are over 1700 mutations that have been identified in the fibrillin-1 (FBN1) gene associated with it, there are many variants that remain unknown. Here we report two family cases of MFS with two new undes...
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| Опубликовано в: : | J Cardiol Cases |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Japanese College of Cardiology
2014
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6279638/ https://ncbi.nlm.nih.gov/pubmed/30534251 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jccase.2014.08.007 |
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