학술논문
Rapid and Progressive Pulmonary Fibrosis in 2 Families with DNA Repair Deficiencies of Undetermined Etiology
Document Type
Academic Journal
Author
Source
The Journal of Pediatrics. Apr 01, 2012 160(4):700-702e3
Subject
Language
English
ISSN
0022-3476
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.