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 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9
  • Publication Date: 2014
  • Doi Number: 10.1186/s13023-014-0171-z
  • Journal Name: ORPHANET JOURNAL OF RARE DISEASES
  • Journal Indexes: Science Citation Index Expanded, Scopus

Abstract

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