A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
Marco
M
Copertino
Egidio
E
Barbi
Furio
F
Poli
Floriana
F
Zennaro
Maurizio
M
Ferrari
Paola
P
Carrera
Alessandro
A
Ventura
D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000502:physiology; D000740:Anemia / Q000209:etiology; D002675:Child, Preschool; D003422:Critical Care; D004417:Dyspnea / Q000209:etiology; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007964:Leukocytosis / Q000209:etiology; D008297:Male; D008478:Mediastinal Emphysema / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics; D020125:Mutation, Missense; D017354:Point Mutation; D011656:Pulmonary Emphysema / Q000000981:diagnostic imaging / Q000209:etiology*; D012141:Respiratory Tract Infections / Q000150:complications; D013352:Subcutaneous Emphysema / Q000000981:diagnostic imaging / Q000209:etiology; D014057:Tomography, X-Ray Computed
C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters