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"Hermansky-Pudlak" syndrome 5
- ... JR, Kaiser-Kupfer MI, White JG, Gahl WA. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet. 2001 Nov;69(5):1022-32. doi: 10.1086/324168. Epub 2001 ...
- ... Gene ClinVar Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ... storage disorder. Curr Mol Med. 2002 Aug;2(5):469-77. doi: 10.2174/1566524023362339. Citation on ...