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

ABSTRACT:

Importance

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.

Objective

To expand the genotypic and phenotypic spectra of ichthyosis and delineate genotype-phenotype associations.

Design, setting, and participants

This cohort study recruited an international group of individuals with ichthyosis and describes characteristic and distinguishing features of common genotypes, including genotype-phenotype associations, during a 10-year period from June 2011 to July 2021. Participants of all ages, races, and ethnicities were included and were enrolled worldwide from referral

SUBMITTER: Sun Q 

PROVIDER: S-EPMC8637393 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature