A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection

Arch Bronconeumol. 2012 Apr;48(4):139-40. doi: 10.1016/j.arbres.2011.11.008. Epub 2012 Feb 2.

[Article in English, Spanish]

Authors

Marco Copertino, Egidio Barbi, Furio Poli, Floriana Zennaro, Maurizio Ferrari, Paola Carrera, Alessandro Ventura

PMID: 22304854
DOI: 10.1016/j.arbres.2011.11.008

No abstract available

Publication types

Case Reports
Letter

MeSH terms

ATP-Binding Cassette Transporters / genetics*
ATP-Binding Cassette Transporters / physiology
Anemia / etiology
Child, Preschool
Critical Care
Dyspnea / etiology
Genetic Predisposition to Disease
Heterozygote
Humans
Leukocytosis / etiology
Male
Mediastinal Emphysema / diagnostic imaging
Mediastinal Emphysema / etiology*
Mediastinal Emphysema / genetics
Mutation, Missense*
Point Mutation*
Pulmonary Emphysema / diagnostic imaging
Pulmonary Emphysema / etiology*
Respiratory Tract Infections / complications
Subcutaneous Emphysema / diagnostic imaging
Subcutaneous Emphysema / etiology
Tomography, X-Ray Computed

Substances

ABCA3 protein, human
ATP-Binding Cassette Transporters