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- DOI to cite this document:
- 10.5283/epub.1976
Abstract
Background: An isolated form of congenital cataract associated with macular hypoplasia and a generally hypopigmented fundus in infancy was observed in a German family. To test the hypothesis that a de-novo mutation had occurred in one of the parental germ lines, a functional candidate gene approach was applied. Methods: The family was carefully examined by a senior paediatric ophthalmologist ...

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