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

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. Pulmon...

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Detalles Bibliográficos
Autores principales: Liendo Martinez, Katiuska, Pedraza, Fernando, Fuentes Alonso, Marta, Puente Maestu, Luis, Rodriguez Naranjo, Carla, De Miguel‐Diez, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2021
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941172/
https://www.ncbi.nlm.nih.gov/pubmed/33732463
http://dx.doi.org/10.1002/rcr2.720

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