Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood

BACKGROUND: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scar...

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Bibliografiska uppgifter
I publikationen:Orphanet J Rare Dis
Huvudupphovsmän: Hengst, Meike, Naehrlich, Lutz, Mahavadi, Poornima, Grosse-Onnebrink, Joerg, Terheggen-Lagro, Suzanne, Skanke, Lars Høsøien, Schuch, Luise A., Brasch, Frank, Guenther, Andreas, Reu, Simone, Ley-Zaporozhan, Julia, Griese, Matthias
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2018
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5870397/
https://ncbi.nlm.nih.gov/pubmed/29580292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0780-z
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