Hermansky Pudlak Syndrome

Decent Essays
Hermansky-Pudlak Syndrome (abbreviated HPS) is an extremely rare form of albinism that is caused by a mutation that occurs in one of the following nine genes: (AP3B1,HPS1, HPS3, HPS4, HPS5, HPS6, DTNBP1,PLDN, BLOC1S3) Symptoms of this form of albinism are similar to that of OCA except there are associated bowel, lung, and bleeding

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