Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis

Hildebrandt J., Yalcin E., Bresser H., Cinel G., Gappa M., Haghighi A., ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.9, 2014 (SCI-Expanded) identifier identifier identifier


Background: Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide.