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
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
Wilson NJ et al.
The British Journal of Dermatology, 2014
A large mutational study in pachyonychia congenita.
Wilson NJ et al.
The Journal of Investigative Dermatology, 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
Clinical and pathological features of pachyonychia congenita.
Leachman SA et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
The genetic basis of pachyonychia congenita.
Smith FJ et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
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