C. Moltrasio

The Clinical and Genetic Landscape of Junctional Skin Disorder in Children: A Scoping Review.

Cellular junctions, including desmosomes, hemidesmosomes, adherens, tight, and gap junctions, are essential for epidermal integrity, barrier function, and cell signaling. Variants in genes encoding proteins involved in cellular junctions lead to a spectrum of skin disorders, commonly referred to as junctional genoderma...

Trio-based whole-exome sequencing identifies convergent epithelial junction-related pathways in syndromic hidradenitis suppurativa.