The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

  title={The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.},
  author={Yiu-mo Michael Chan and Qian-chun Yu and Jacqueline Fine and Elaine Fuchs},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  volume={90 15},
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical-stress-induced degeneration of basal epidermal cells. Recently, it was discovered that the more severe types, Dowling-Meara and Koebner, are genetic disorders of the basal epidermal keratins, keratin 5 (K5) and keratin 14 (K14). Here, we show that the mildest type of EBS, Weber-Cockayne, is also a disorder of these keratins. Affected members of two unrelated families… CONTINUE READING
25 Citations
0 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 25 extracted citations

Similar Papers

Loading similar papers…