Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
Evaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experience.
Deveci MF et al.
Journal of Clinical Practice and Research, 2023
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
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.
Ennouri M et al.
Bmc Medical Genomics, 2022
Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.
Tang H et al.
Clinical Case Reports, 2021
Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.
Nohara T et al.
Journal of Dermatological Science, 2021
Bending of DNA duplexes with mutation motifs.
Růžička M et al.
Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
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
Autosomal recessive congenital ichthyoses in the Czech Republic.
Bučková H et al.
The British Journal of Dermatology, 2016
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