Associated Papers
KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.
Ren Y et al.
American Journal of Medical Genetics. Part A, 2026
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Molecular epidemiology of pachyonychia congenita in the Israeli population.
Pavlovsky M et al.
Clinical and Experimental Dermatology, 2021
A large mutational study in pachyonychia congenita.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2011
Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.
Bai ZL et al.
The British Journal of Dermatology, 2008
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
The genetic basis of pachyonychia congenita.
Smith FJ et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
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