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Early-Onset Marfan Syndrome: A Case Series
Mutations in fibrillin 1 cause Marfan syndrome (MFS), an autosomal dominant disorder of the connective tissue, with multisystem manifestations. In early-onset MFS, the physical characteristics are expressed much earlier than the classical MFS. Those affected by this form generally have their mutatio...
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| Pubblicato in: | J Pediatr Genet |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Georg Thieme Verlag KG
2019
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| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6499610/ https://ncbi.nlm.nih.gov/pubmed/31061752 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1675338 |
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