Associated Papers
The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa.
Wang H et al.
Frontiers in Genetics, 2024
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
Elango T et al.
Human Genomics, 2018
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.
Liu Q et al.
Molecular Medicine Reports, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.
McLean WH et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
Covello SP et al.
The British Journal of Dermatology, 1998
Pachyonychia congenita type 2: keratin 17 mutation in a Japanese case.
Fujimoto W et al.
Journal of the American Academy of Dermatology, 1998
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
Smith FJ et al.
The Journal of Investigative Dermatology, 1997
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
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