Associated Papers
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Hebert A et al.
Elife, 2022
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.
Chen J et al.
Frontiers in Pediatrics, 2022
Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1.
Aarts CEM et al.
Stem Cell Research, 2021
Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.
Karampini E et al.
Haematologica, 2019
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
Hengst M et al.
Orphanet Journal of Rare Diseases, 2018
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
de Boer M et al.
Human Mutation, 2017
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