Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
Brief Summary:
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.