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Cockayne syndrome

What are the causes?

The underlying cause is known to be a defect in the enzymes that repair DNA after UV damage. There are several different enzymes involved and the diagnosis of the specific enzyme depends on cellular studies carried out from the cells grown from a skin biopsy (fibroblasts). This is carried out in highly specialised laboratories.

View What are the symptoms? What are the symptoms?  |  How is it treated? View How is it treated?

Medical text written February 2002 by Professor M Patton, Last reviewed September 2007 by Professor M Patton, Professor of Medical Genetics, St. George's Hospital Medical School, London, UK

 

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