A family history of Hermansky–Pudlak syndrome complicated with pulmonary fibrosis: a case series and review

Abstract The Hermansky–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 bleedin...

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Bibliographic Details
Main Authors: Katiuska Liendo Martinez, Fernando Pedraza, Marta Fuentes Alonso, Luis Puente Maestu, Carla Rodriguez Naranjo, Javier De Miguel‐Diez
Format: Article
Language:English
Published: Wiley 2021-04-01
Series:Respirology Case Reports
Subjects:
Online Access:https://doi.org/10.1002/rcr2.720