Article

Whole Exome Sequencing Identifies Novel Pathogenic Variants in TGM1 and ALOX12B in Patients with Hereditary Ichthyosis

2023-07-07

Abstract excerpt

<h4>Background: </h4> Hereditary ichthyosis is a clinically and genetically heterogeneous disorder of keratinization, characterized by cutaneous hyperkeratosis of the skin. Mutations in over 50 genes have been identified to be associated with hereditary ichthyosis. Establishing an accurate diagnosis is important for genetic counseling and patient management. Objective We aimed to assess the clinical applicability...

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Literature Corpus work: f0b8babc-0a6f-5923-bec8-157ce4faf42a
DOI: 10.21203/rs.3.rs-3133946/v1

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