Pulmonary Fibrosis Predisposition Overview
- PMID: 20301408
- Bookshelf ID: NBK1230
Pulmonary Fibrosis Predisposition Overview
Excerpt
The purpose of this overview is to:
- 1
Briefly describe the clinical characteristics of pulmonary fibrosis.
- 2
Review genetic causes of pulmonary fibrosis.
- 3
Review the differential diagnosis of pulmonary fibrosis.
- 4
Provide an evaluation strategy to identify the genetic cause of pulmonary fibrosis in a proband.
- 5
Review management of pulmonary fibrosis.
- 6
Inform genetic counseling of family members of an individual with a genetic predisposition to pulmonary fibrosis.
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.
Sections
- Summary
- 1. Clinical Characteristics of Pulmonary Fibrosis
- 2. Genetic Causes of Pulmonary Fibrosis
- 3. Differential Diagnosis of Pulmonary Fibrosis
- 4. Evaluation Strategies to Identify the Genetic Cause of Pulmonary Fibrosis in a Proband
- 5. Management of Pulmonary Fibrosis
- 6. Genetic Counseling
- Resources
- Chapter Notes
- References
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References
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- Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A. 2005;102:15960-4. - PMC - PubMed
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