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Article

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

Archivos de bronconeumologia - 1 Apr 2012

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

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

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

Genes

ABCA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.PMID 22304854Read ↗

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[A novel compound heterozygous mutation in ABCA3 gene in a child with diffuse parenchymal lung disease].Semantic proximity Read ↗

ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl.Semantic proximity Read ↗

ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease.Semantic proximity Read ↗

[A novel compound heterozygous variation in ABCA3 gene in a child with interstitial lung disease].Semantic proximity Read ↗

Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.Semantic proximity Read ↗

Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress.Semantic proximity Read ↗

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.Semantic proximity Read ↗

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.Semantic proximity Read ↗

Lung disease caused by ABCA3 mutations.Semantic proximity Read ↗

ABCA 3 mutation associated childhood Interstitial Lung Disease (chILD) presenting as Combined Pulmonary Fibrosis and Emphysema in siblings.Semantic proximity Read ↗

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