Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome

• Main Authors: Lanny T. DiFranza (Author), Dong Chen (Author), Charles C. Marboe (Author), Alex J. Rai (Author)
• 格式: 圖書
• 出版: Elsevier, 2021-09-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

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...