Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress

• Main Authors: Anna Tarocco (Author), Elisa Ballardini (Author), Maria Raffaella Contiero (Author), Giampaolo Garani (Author), Silvia Fanaro (Author)
• Format: Book
• Published: Hindawi Limited, 2015-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Multiple mutations of surfactant genes causing surfactant dysfunction have been described. Surfactant protein C (SP-C) deficiency is associated with variable clinical manifestations ranging from neonatal respiratory distress syndrome to lethal lung disease. We present an extremely low birth weight m...