Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes
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DOI: 10.3390/genes14010145
Abstract: Background: Hermansky–Pudlak syndrome (HSP) was first reported in 1959 as oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct heterogenic genetic disorders that are caused by mutations in four protein complexes: AP-3, BLOC1,… read more here.
Keywords: family; hps4 genes; novel variants; pudlak syndrome ... See more keywords