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Case Reports
Journal Article
Research Support, Non-U.S. Gov't
The unique association of iris heterochromia with Hermansky-Pudlak syndrome.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus 2013 October
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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