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Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report
RATIONALE: Marfan syndrome (MFS) has been defined as a genetic disorder that affects various systems such as the musculoskeletal, orbital, and cardiovascular systems. Neonatal MFS is considered rare and the most severe form of MFS is characterized by rapidly progressive atrioventricular valve dysfun...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545169/ https://www.ncbi.nlm.nih.gov/pubmed/33578525 http://dx.doi.org/10.1097/MD.0000000000024301 |