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

• Main Authors: Ana Ratola (Author), Helena Moreira Silva (Author), Ana Guedes (Author), Céu Mota (Author), Ana Cristina Braga (Author), Dulce Oliveira (Author), Artur Alegria (Author), Carmen Carvalho (Author), Sílvia Álvares (Author), Elisa Proença (Author)
• Format: Book
• Published: MDPI AG, 2015-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...