Associated Papers
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.
Chen J et al.
Frontiers in Pediatrics, 2022
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
de Boer M et al.
Human Mutation, 2017
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Jessen B et al.
Blood, 2013
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.
Gochuico BR et al.
Molecular Medicine (cambridge, Mass.), 2012
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