Novel mutations in the mevalonate pathway genes were identified in patients with porokeratosis, expanding genetic knowledge.
This study reports the discovery of two MVD and one FDPS mutations that may underpin porokeratosis pathology.
Assessment of genetic variations focused on individuals diagnosed with porokeratosis, revealing significant findings.
The findings may enable improved understanding of underlying genetic mechanisms, paving the way for future research.
Abstract
This research has expanded the database of mevalonate pathway genes associated with PK, thereby improving our comprehension of the fundamental mechanisms involved.