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Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation
Journal of Medical Genetics
|February 1, 1984
Abstract:
We describe a family in which autosomal dominant anterior polar cataracts are segregating in four members over three generations with an apparently balanced reciprocal translocation between chromosomes 2 and 14. We conclude that altered function of a gene or genes on chromosomes 2 or 14 are important in the embryological development of the lens.