Article
A Novel Large Deletion in the EVER1 Gene in a Family With Epidermodysplasia Verruciformis From India.
The American Journal of dermatopathology - 1 Jun 2024
Godfred Adithya Christopher, Thomas Zachariah, Peter Dincy, Joseph Anjana, Ravichandran Lavanya, George Anu Anna, Pulimood Susanne A, Gaikwad Pranay, Babu Ramesh, Thomas Meera, Thomas Nihal, Chapla Aaron
Abstract excerpt
ABSTRACT: Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis due to mutations in EVER1 and EVER2 genes. The genetic profile of Indian patients with EV has not been previously studied. This report describes the clinical presentation and molecular analysis of a family with EV. Using genomic DNA from two affected probands and healthy controls (two other siblings), conventional...
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