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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Bibliographic Details
Main Authors: Hitesh Patel, Seema Balasubramaniam
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
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