Format

Send to

Choose Destination
See comment in PubMed Commons below
J Pediatr. 2012 Apr;160(4):700-702.e3. doi: 10.1016/j.jpeds.2011.12.001. Epub 2012 Jan 10.

Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.

Author information

1
Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. tjvece@texaschildrens.org

Abstract

Known genetic causes of pediatric interstitial lung disease include disorders of surfactant metabolism, telomerase, and DNA repair. We report 4 children from 2 families with rapidly progressive and fatal pulmonary fibrosis. A novel DNA repair defect unrelated to the ataxia-telangiectasia mutated gene was found in 1 child from each family.

PMID:
22240110
PMCID:
PMC4835171
DOI:
10.1016/j.jpeds.2011.12.001
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center