title: Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene.
abstract: A full-term infant developed respiratory distress immediately after birth, requiring a prolonged course of extra-corporeal membrane oxygenation, followed by high-frequency ventilation. She was unable to wean off mechanical ventilation, required tracheostomy, and ultimately lung transplantation. A novel mutation in the surfactant C protein gene was identified as the cause of her lung disease.
authors.affiliation: Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA. Brandon.Poterjoy@drexelmed.edu
authors.forename: B S
authors.initials: BS
authors.lastname: Poterjoy
authors.forename: Y
authors.initials: Y
authors.lastname: Vibert
authors.forename: M
authors.initials: M
authors.lastname: Sola-Visner
authors.forename: J
authors.initials: J
authors.lastname: McGowan
authors.forename: G
authors.initials: G
authors.lastname: Visner
authors.forename: L M
authors.initials: LM
authors.lastname: Nogee
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D016040:Lung Transplantation; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy
chemical_list: D037721:Pulmonary Surfactant-Associated Protein C