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Article

A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report.

Journal of medical case reports - 2 May 2017

Al-Haidary Adel S, Alotaibi Wadha, Alhaider Sami A, Al-Saleh Suhail

Abstract excerpt

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 stimulating factor 2 receptor alpha gene. CASE PRESENTATION: A 5-year-old Saudi boy presented with a history of progressive...

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Identifiers

PMID: 28464852
DOI: 10.1186/s13256-017-1285-4
PMCID: PMC5414320

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