BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Hermansky–Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes. We aimed to identify new genes involved in nonsyndromic or syndromic forms of albinism. Two hundred thirty albinism patients lacking a molecular diagnosis of…

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