Hermansky-Pudlak syndrome 2 — a novel mutation with factor VII deficiency: a fluke from India
Abstract Objective Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and bleeding diathesis with other variable phenotypic features found in some of its subtypes, such as pulmonary fibrosis, colitis, or neutropenia. The disease is related...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Springer
2025-07-01
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| Series: | Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/s44162-025-00084-z |
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