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A clinical study of a family with Cockayne's syndrome
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  1. Rosalyn Proops*,
  2. A M R Taylor†,
  3. J Insley‡
  1. *The University Department of Clinical Genetics, Birmingham Maternity Hospital, Birmingham
  2. †The Department of Cancer Studies, The Medical School, University of Birmingham, Birmingham
  3. ‡The Infant Development Unit, Birmingham Maternity Hospital, Birmingham

    Abstract

    Two sibs with Cockayne's syndrome are described. The recognised cellular sensitivity to ultraviolet light is confirmed. The clinical features in the two children are described and comparisons are made with some forms of xeroderma pigmentosum, a condition in which there is progressive neurological degeneration and cellular sensitivity to ultraviolet irradiation.

    http://dx.doi.org/10.1136/jmg.18.4.288

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