Article
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Apr 2015
Ishaq Mazhar, Niazi Muhammad Khizar, Khan Muhammad Saim, Nadeem Yasser
Abstract excerpt
Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has fou...
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