Abstract:The Hernansky–Pudlak syndrome (HPS) is a rare genetic disorder. We report three cases from a family of 12 siblings, with six albinos, of whom four and the father had pulmonary fibrosis (PF). Case 1 was admitted to our hospital due to increasing dyspnoea and history of gynaecological bleeding. Pulmonary function test showed a restrictive airflow pattern, high‐resolution computed tomographic scan demonstrated interstitial lung disease (ILD), and platelet aggregation was compromised with a reduced number of plate… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.