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 rare disorder associated with mutations in
the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins …

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

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

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

Genetic disorders affecting biogenesis and transport of lysosome-related organelles are
heterogeneous diseases frequently associated with albinism. We studied a patient with …

Abstract Adaptor protein-3 (AP-3) is an ubiquitous cytoplasmic complex that shuttles cargo
proteins from the trans-Golgi and a tubular-endosomal compartment to endosome-lysosome …

Defects in a triad of organelles (melanosomes, platelet granules, and lysosomes) result in
albinism, prolonged bleeding, and lysosome abnormalities in Hermansky-Pudlak syndrome …

Hermansky-Pudlak type 2 is an autosomal recessive disorder characterized by
oculocutaneous albinism, bleeding disorders, recurrent infections, and moderate/severe …

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