Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report

BACKGROUND: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes. Homozygous or compound heterozygous pathological variants in HPS1, HPS3...

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Detalles Bibliográficos
Autores principales: Doubková, Martina, Trizuljak, Jakub, Vrzalová, Zuzana, Hrazdirová, Anna, Blaháková, Ivona, Radová, Lenka, Pospíšilová, Šárka, Doubek, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794755/
https://www.ncbi.nlm.nih.gov/pubmed/31619213
http://dx.doi.org/10.1186/s12890-019-0941-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794755/
https://www.ncbi.nlm.nih.gov/pubmed/31619213
http://dx.doi.org/10.1186/s12890-019-0941-4

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