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Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements

15 Dec 1992

Abstract excerpt

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 and one from another. In all four patients, primary skin...

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PMID: 1361371
DOI: 10.1182/blood.v80.12.3090.3090

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