Genetic diseases associated with DNA and chromosomal instability

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Diseases associated with DNA and chromosomal instability, along with their underlying etiopathologic mechanisms, are among the most complex and poorly understood of any group of disorders known. Nevertheless, these disorders constitute one of the most interesting groups of diseases that have been studied. Their pathogenesis is almost certainly intimately related to the most fundamental processes of life itself: the maintenance, replication, and expression of the genome. They also have a relevance to human disease that is far more extensive than the numbers of patients who have these diseases, most of which are rare, would indicate. These disorders are model systems for more common problems such as mutagenesis, aging, and, in particular, carcinogenesis. One of these disorders, xeroderma pigmentosum, is of particular significance to dermatologists because it is associated with variable, but often extreme, sensitivity to an environmental agent of special interest to dermatologists, ultraviolet (UV) light.

Original languageEnglish
Pages (from-to)85-108
Number of pages24
JournalDermatologic Clinics
Issue number1
StatePublished - 1987
Externally publishedYes


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