Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive genetic disorder in which the proper function of lysosome-related organelles (LROS) is impaired due to mutation in one of several well-characterized genes, including, but not limited to: HPS1, HPS3, and HPS4. Clinical manifestations include o...
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Elsevier,
2021-09-01T00:00:00Z.
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