CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
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The unique association of iris heterochromia with Hermansky-Pudlak syndrome.

Melanin biosynthesis is reduced in oculocutaneous albinism, an autosomal recessive disorder. Hermansky-Pudlak syndrome is associated with oculocutaneous albinism but also has systemic complications. The ocular and systemic phenotypes vary, depending, in part, on the genetic mutations. This report presents a case of a patient with Hermansky-Pudlak syndrome and the unique association of iris heterochromia.

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