Single gene disorders and dermatology
The last decade has witnessed phenomenal advances in our understanding of the molecular basis of an ever-increasing number of inherited diseases. To date, more than 1,000 different single-gene disorders have been characterised, of which more than 300 affect the skin or its appendages. This explosion of information has had a significant impact at a basic science level in unravelling much about the structure and function of normal skin, and has started to lead to more logical classification systems based on specific causative molecular pathology.
Dermatology in practice 2002; 10(1): 16–19
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