Variations in platelet number, volume, and function are largely genetically controlled, and
many loci associated with platelet traits have been identified by genome-wide association …

Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder
characterized by oculocutaneous albinism and a bleeding diathesis due to platelet …

Rare genetic disorders, which can now be studied systematically with affordable genome
sequencing, are often caused by high-penetrance rare variants. Such disorders are often …

Hermansky-Pudlak syndrome (HPS) is a recessive disorder with bleeding diathesis, which
has been linked to platelet granule defects. Both platelet granules and endothelial Weibel …

Hermansky–Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by
oculocutaneous albinism, platelet dysfunction and ceroid deposition. We report suspected …

Background Hermansky–Pudlak syndrome (HPS) may present to the ophthalmologist with
signs suggestive of oculocutaneous albinism. Consideration of HPS as a differential …

Normal skin pigmentation is dependent upon efficient melanin synthesis and melanosome
maturation within melanocytes, melanosome transfer to neighbouring keratinocytes and …

As lysosome‐related organelles (LROs) are required for the physiology of the organism but
not for the viability of the cell that generates them, heritable defects in the formation …

Pigmentation in mammals is important for protection of skin and eyes from ultraviolet
radiation. Dysregulation of pigmentation is often associated with other conditions that are not …

Summary Hermansky–Pudlak Syndrome (HPS) is a genetically heterogeneous disorder of
lysosome-related organelle biogenesis and is characterized by oculocutaneous albinism …