Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements.

Abstract

Dyskeratosis congenita (DC) is a rare inherited disorder characterized by bone marrow failure, dystrophic changes in the skin and mucous membranes, and a predisposition to malignancy. The DC locus has been mapped to Xq28. The primary defect responsible for this disease remains unknown. We have studied four patients with this disease, three from one family… (More)

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Cite this paper

@article{Dokal1992DyskeratosisCF, title={Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements.}, author={Inderjeet S Dokal and J B Bungey and P. Williamson and David Oscier and Jill M. Hows and Lucio Luzzatto}, journal={Blood}, year={1992}, volume={80 12}, pages={3090-6} }