Associated Papers
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
Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm).
Shi W et al.
Journal of Dermatological Science, 2021
Select a paper to view details