Neonatal marfan syndrome due to missense mutation in exon 26 of fbn1 gene

• Huvudskapare: Hitesh Patel (Författare, medförfattare), Seema Balasubramaniam (Författare, medförfattare)
• Materialtyp: Bok
• Publicerad: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Ämnen: article
• Länkar: Connect to this object online.

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...