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Article

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

JAMA dermatology - 1 Jan 2022

Sun Qisi, Burgren Nareh M, Cheraghlou Shayan, Paller Amy S, Larralde Margarita, Bercovitch Lionel, Levinsohn Jonathan, Ren Ivy, Hu Rong Hua, Zhou Jing, Zaki Theodore, Fan Ryan, Tian Charlie, Saraceni Corey, Nelson-Williams Carol J, Loring Erin, Craiglow Brittany G, Milstone Leonard M, Lifton Richard P, Boyden Lynn M, Choate Keith A

Abstract excerpt

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...

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Identifiers

PMID: 34851365
DOI: 10.1001/jamadermatol.2021.4242
PMCID: PMC8637393

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