By Disease Name > Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome
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autosomal recessive; Puerto Ricans (1 in 21 carry mutatation)
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=
OCA
oculocutaneous albinism
plus hemorrhagic diathesis secondary to the absence of dense bodies in
platelets
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may have completely absent to normal pigment
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majority have ocular findings similar to albinism
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tyrosinase (+)