Article
[Changing perception of hereditary eye diseases].
Nederlands tijdschrift voor geneeskunde - 23 Feb 2002
Plomp A S, Bergen A A B, Hulsman C A A, de Jong P T V M
Abstract excerpt
The authors present the cases of two parents with Usher syndrome type I who appeared to have normal offspring, and two families, one with autosomal dominant retinoblastoma and a RB1-gene mutation and one with primary open angle glaucoma and a myocilin gene mutation, in whom DNA-analysis was used to see whether check-ups were needed. The field of ophthalmogenetics comprises many disorders, both congenital and...
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