Neonatal marfan syndrome due to missense mutation in exon 26 of fbn1 gene
Background: Neonatal Marfan syndrome (MFS) lies at the most severe end of the MFS clinical spectrum, sharing some characteristics of MFS, but with a more severe clinical phenotype, slightly variable genotype, and a poor prognosis. We report a case of neonatal MFS diagnosed antenatally and in whom di...
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| Main Authors: | , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Wolters Kluwer Medknow Publications
2021-01-01
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| Series: | Indian Pediatrics Case Reports |
| Subjects: | |
| Online Access: | http://www.ipcares.org/article.asp?issn=2772-5170;year=2021;volume=1;issue=3;spage=199;epage=201;aulast=Patel |
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