Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism.

Abstract excerpt

Technical advances in the prenatal diagnosis of tyrosinase-negative oculocutaneous albinism, the most severe subtype of this disease, are reviewed. Ultrastructural examination of hair bulb melanocytes in fetal skin during the second trimester of pregnancy was the first successful method for the prenatal diagnosis of oculocutaneous albinism. Subsequent introduction of the electron microscopic DOPA reaction test in...

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