Journal of Pharmacy and Bioallied Sciences (Jan 2015)
Genodermatoses
Abstract
Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases.
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