Hermansky-pudlak syndrome type 2: a rare cause of severe periodontitis in adolescents—a case study

HIGHLIGHTS

• who: Wenjie Li from the University of Perugia, Italy have published the research work: Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescentsu2014A case study, in the Journal: (JOURNAL) of 24/07/2021

SUMMARY

The decrease or absence of dense particles in platelets leads to platelet storage pool deficiency, resulting in impaired platelet function. The diagnosis of HPS-2 is confirmed by pathogenic variants in AP3B1, absence of platelet dense granules, and clinical symptoms, including OCA and neutropenia. Due to neutropenia and impaired platelet function, many HPS-2 patients . . .

 



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