Associated Papers
Genetic testing and new variants in diagnosis of congenital ichthyoses.
Salo M et al.
Molecular Genetics & Genomic Medicine, 2024
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Diociaiuti A et al.
Dermatology (basel, Switzerland), 2024
Whole-exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein.
Zhao L et al.
The Journal of Dermatology, 2022
35014717 (PubMed )
Supplement: supplement_1.docx
Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.
Nohara T et al.
Journal of Dermatological Science, 2021
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Hotz A et al.
Human Mutation, 2018
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.
Feng C et al.
Clinical and Experimental Dermatology, 2017
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