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
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
33917151 (PubMed )
Supplement: jcm-10-01552-s001.zip › TableS1_Distribution-variants_Revised.xlsx › Feuil2
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z et al.
Elife, 2015
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