Article
Prenatal diagnosis of choroideremia.
Acta ophthalmologica Scandinavica. Supplement - 1 Jan 1996
Schwartz M, Rosenberg T
Abstract excerpt
With the mapping of the locus CHM for choroideremia and the subsequent cloning of the gene, reliable carrier and prenatal diagnosis has become a possibility. We discuss our experience with prenatal diagnosis of choroideremia, an X-linked choroidoretinal dystrophy leading to blindness in otherwise healthy males. In the period 1987-1995, five prenatal diagnoses have been performed by either indirect linkage...
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