Associated Papers
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.
Khan J et al.
Bmc Ophthalmology, 2024
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
Zaman Q et al.
Genes, 2023
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.
Doubková M et al.
Bmc Pulmonary Medicine, 2019
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.
Yousaf S et al.
Pigment Cell & Melanoma Research, 2016
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