Thailand Science Park

Synonymous COL7A1 c.6846G>C in Dystrophic Epidermolysis Bullosa: Oral Phenotypic Expansion and Palatal Ultrastructure

Background Dystrophic epidermolysis bullosa (DEB) results from pathogenic COL7A1 variants that impair collagen VII–dependent epithelial anchorage. Hard-palatal papules, absent lingual frenula, and ultrastructural characterization of these lesions have not been reported. Case desc...