Hermansky–Pudlak syndrome type 4 with interstitial pneumonia

Hermansky–Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal accumulation of ceroid-like material, with occasional development of interstitial pneumonia (IP). Nine genetically distinct subtypes of HPS are known in human...

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Detalles Bibliográficos
Autores principales: Sakata, Yoshihiko, Kawamura, Kodai, Ichikado, Kazuya, Suga, Moritaka, Yoshioka, Masakazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949545/
https://www.ncbi.nlm.nih.gov/pubmed/26029628
http://dx.doi.org/10.1016/j.rmcr.2013.04.002

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