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J Invest Dermatol. 2011 Oct;131(10):1971-3. doi: 10.1038/jid.2011.253.

Next-generation diagnostics for inherited skin disorders.

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  • 1St John's Institute of Dermatology, King's College London, Guy's Campus, London, UK.


Identifying genes and mutations in the monogenic inherited skin diseases is a challenging task. Discoveries are cherished but often gene-hunting efforts have gone unrewarded because technology has failed to keep pace with investigators' enthusiasm and clinical resources. But times are changing. The recent arrival of next-generation sequencing has transformed what can now be achieved.

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