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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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Pubblicato in: | Orphanet J Rare Dis |
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Autori principali: | , , , , , , , , , , , |
Natura: | Artigo |
Lingua: | Inglês |
Pubblicazione: |
BioMed Central
2018
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Soggetti: | |
Accesso online: | 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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