Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L et al.
Clinical and Experimental Dermatology, 2021
A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.
Xu Q et al.
Journal of Cosmetic Dermatology, 2019
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
29784039 (PubMed )
Supplement: 40246_2018_158_MOESM2_ESM.xlsx › K16
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2B
Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b.
Guo K et al.
The Journal of Dermatology, 2014
Keratin gene mutations in disorders of human skin and its appendages.
Chamcheu JC et al.
Archives of Biochemistry and Biophysics, 2011
A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1.
Zhou HL et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007
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
Nail that mutation-keratin 17 defect in late-onset pachyonychia.
Smith FJ
The Journal of Investigative Dermatology, 2004
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.
Connors JB et al.
The British Journal of Dermatology, 2001
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