Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene
Hermansky–Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism (OCA) and bleeding diathesis. To date, 11 HPS types have been reported (HPS-1 to HPS-11), each defined by disease-causing variants in specific genes. Variants in the HPS1 gene we...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-08-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.936064/full |