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

Abstract 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...

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Detalhes bibliográficos
Main Authors: Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A. Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan, Matthias Griese
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-03-01
Colecção:Orphanet Journal of Rare Diseases
Assuntos:
Hermansky-Pudlak syndrome type 2
Childhood
Pulmonary fibrosis
Tachydyspnea
Pulmonary phenotype
Acesso em linha:http://link.springer.com/article/10.1186/s13023-018-0780-z
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