| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4165575 | The Journal of Pediatrics | 2012 | 6 Pages |
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.
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Authors
Timothy J. MD, Marc G. MD, Richard A. MD, Rashmi PhD, Christine Kim MD, Claire MD, Megan K. MD, Robert H. MD, Leland L. MD,