Hermansky–Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive
inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding …

Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in
the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins …

Patients with Hermansky–Pudlak syndrome type 2 (HPS2) present with oculocutaneous
albinism, nystagmus, prolonged bleeding time, and increased susceptibility to infections …

Hemophagocytic lymphohistiocytosis (HLH) is a lifethreatening hyperinflammatory disease
caused by uncontrolled and ineffective immune activation. Primary HLH is caused by …

Hermansky–Pudlak syndrome (HPS; OMIM 203300) is an autosomal recessive and a
genetically heterogeneous disorder characterized by oculocutaneous albinism (OCA) …

Abstract Hermansky-Pudlak syndrome (HPS)− characterized by the distinct clinical
phenotypes of both oculocutaneous albinism and mild bleeding diathesis–is caused by …

Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is
characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect …

Abstract Hermansky‐Pudlak syndrome 9 (HPS‐9) is a recessive disorder caused by
BLOC1S6 gene. There are only four variants identified from four HPS‐9 patients so far …

Hermansky–Pudlak syndrome (HPS) associates oculocutaneous albinism and systemic
affections including platelet dense granules anomalies leading to bleeding diathesis and …

Fig. 1 The clinical features of a 2-year-Japanese boy with HPS. He showed a clinically
moderate OCA with blue irides, nystagmus, virtually creamy-white skin, and blond hair (A) …