Article
Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene.
The Journal of investigative dermatology - 1 Jul 1994
Shimizu H, Niizeki H, Suzumori K, Aozaki R, Kawaguchi R, Hikiji K, Nishikawa T
Abstract excerpt
Tyrosinase-negative oculocutaneous albinism, the most severe subtype of a heterogeneous group of albinism, is an autosomal recessive trait caused by mutations in the tyrosinase gene. Prenatal diagnosis had been made previously only by evaluating fetal skin obtained by biopsy, an invasive procedure that cannot be performed earlier than 19 weeks of gestation. A pregnant mother of a 9-year-old Japanese boy with...
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