A Case Report of Hermansky-Pudlak Syndrome

Background & aim: Hermansky-Podlock Syndrome (HPS) is a rare autosomal recessive disease caused by major defects in protein trafficking. HPS is characterized by ocular cutaneous albinism, the absence of dense platelet granules, and the resulting bleeding diathesis. Therefore, due to the rarity o...

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Bibliografske podrobnosti
Main Authors: KH Khashei Varnamkhasti, M Alipour
Format: Article
Jezik:fas
Izdano: Yasuj University Of Medical Sciences 2021-04-01
Serija:Armaghane Danesh Bimonthly Journal
Teme:
Online dostop:http://armaghanj.yums.ac.ir/article-1-2874-en.html