Hermansky Pudlak Syndrome
Dec. 26, 2024
Diagnosing HPS | Hermansky-Pudlak Syndrome Network Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising | Orphanet Journal of Rare Diseases | Full Text Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2 | Pediatric Research Hermansky Pudlak Syndrome