Abstract
Objective: Clear genotype-phenotype associations in ichthyosis have been difficult to establish. We aimed to expand the genotypic and phenotypic spectra of ichthyosis and delineate genotype-phenotype associations. Design: We recruited an international group of individuals with ichthyosis, including participants of all ages, races, and ethnicities. Genetic analysis of saliva or blood, a phenotyping questionnaire, and standardized clinical photographs were obtained. Results: Among 1000 unrelated individuals, 266 novel variants in 32 genes were identified.
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