Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing

Category Primary study
Registry of Trialsclinicaltrials.gov
Year 2015
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases. The secondary purpose will be to study the genotype-phenotype correlation in order to re-evaluate the classification of these disorders. This work could help in the understanding of the physiopathology of very rare skin disorders.
Epistemonikos ID: 0ea4c936afb9b5636c59942639faf06cffd2c92b
First added on: May 12, 2024