Associated Papers
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.
Yang Y et al.
The British Journal of Dermatology, 2026
A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype.
Jairaman A et al.
Clinical Genetics, 2024
A Novel PMVK Variant Associated with Familial Porokeratosis.
Zhang W et al.
Human Heredity, 2023
Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis.
Leng Y et al.
The Journal of Dermatology, 2018
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