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Original Research, Human Studies, Basic Neurobiology, Pharmacology/Drug Development, Itch

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The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to establish.

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