Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis

BACKGROUND: Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide. METHODS: We identified nine children with severe diffuse interstitial lung disease due to CSF2RA mutations. Clinical course, diagnostic findings and treatme...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Hildebrandt, Jenna, Yalcin, Ebru, Bresser, Hans-Georg, Cinel, Guzin, Gappa, Monika, Haghighi, Alireza, Kiper, Nural, Khalilzadeh, Soheila, Reiter, Karl, Sayer, John, Schwerk, Nicolaus, Sibbersen, Anke, Van Daele, Sabine, Nübling, Georg, Lohse, Peter, Griese, Matthias
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4254258/
https://ncbi.nlm.nih.gov/pubmed/25425184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0171-z
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