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A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report
BACKGROUND: The congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulati...
Gardado en:
| Publicado en: | J Med Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5414320/ https://ncbi.nlm.nih.gov/pubmed/28464852 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-017-1285-4 |
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