A novel Noonan syndrome RAF1 mutation: lethal course in a preterm infant

A novel Noonan syndrome RAF1 mutation: lethal course in a preterm infant

Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal ou...

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Bibliographic Details
Main Authors: Ana Ratola, Helena Moreira Silva, Ana Guedes, Céu Mota, Ana Cristina Braga, Dulce Oliveira, Artur Alegria, Carmen Carvalho, Sílvia Álvares, Elisa Proença
Format: Article
Language:English
Published: MDPI AG 2015-06-01
Series:Pediatric Reports
Subjects:
RASopathies
RAF1 gene
prematurity
hypertrophic cardiomyopathy
death
Online Access:http://www.pagepress.org/journals/index.php/pr/article/view/5955

Internet

http://www.pagepress.org/journals/index.php/pr/article/view/5955

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