Familial Lipomatosis Clinical Trial
Official title:
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
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.
n/a
Observational Model: Cohort, Time Perspective: Prospective