Abstract Background Hermansky-Pudlak syndrome 2 (HPS2; OMIM# 608233) is a rare,
autosomal recessive disorder caused by loss-of-function genetic variations affecting AP3B1 …

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

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 …

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease consisting of
oculocutaneous albinism and a storage pool deficiency resulting from absent platelet dense …

We report on the molecular etiology of an unusual clinical phenotype associating congenital
neutropenia, thrombocytopenia, developmental delay, and hypopigmentation. Using genetic …

Hermansky–Pudlak syndrome type 2 (HPS2) is a syndrome caused by mutations in the beta‐
3A subunit of the adaptor protein (AP)‐3 complex (AP3B1 gene). We describe five …

Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a
bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or …

Abstract Background Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive
disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes …

Abstract Several types of Hermansky-Pudlak syndromes (HPS) represent a group of
immunodeficiency syndromes that feature both leukocyte defects with partial albinism of …

Abstract Purpose Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten
reported genetic types; each type has defects in subunits of either Adaptor Protein-3 …