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

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

Abstract 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 HP...

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Bibliographic Details
Main Authors: Martina Doubková, Jakub Trizuljak, Zuzana Vrzalová, Anna Hrazdirová, Ivona Blaháková, Lenka Radová, Šárka Pospíšilová, Michael Doubek
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Pulmonary Medicine
Subjects:
Exome sequencing
Hermansky-Pudlak syndrome
Pulmonary fibrosis
Online Access:http://link.springer.com/article/10.1186/s12890-019-0941-4

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