TY - JOUR T1 - A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. JF - Arch Bronconeumol Y1 - 2012 A1 - Copertino, Marco A1 - Barbi, Egidio A1 - Poli, Furio A1 - Zennaro, Floriana A1 - Ferrari, Maurizio A1 - Carrera, Paola A1 - Ventura, Alessandro KW - Anemia KW - ATP-Binding Cassette Transporters KW - Child, Preschool KW - Dyspnea KW - Genetic Predisposition to Disease KW - Heterozygote KW - Humans KW - Intensive Care KW - Leukocytosis KW - Male KW - Mediastinal Emphysema KW - Mutation, Missense KW - Point Mutation KW - Pulmonary Emphysema KW - Respiratory Tract Infections KW - Subcutaneous Emphysema KW - Tomography, X-Ray Computed VL - 48 IS - 4 U1 - http://www.ncbi.nlm.nih.gov/pubmed/22304854?dopt=Abstract ER -