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...

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Detalles Bibliográficos
Autores principales: Al-Haidary, Adel S., Alotaibi, Wadha, Alhaider, Sami A., Al-Saleh, Suhail
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414320/
https://www.ncbi.nlm.nih.gov/pubmed/28464852
http://dx.doi.org/10.1186/s13256-017-1285-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414320/
https://www.ncbi.nlm.nih.gov/pubmed/28464852
http://dx.doi.org/10.1186/s13256-017-1285-4

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