Abstract
Desmoglein-3 (Dsg3) is a transmembrane component of the desmosome that plays an essential role in keratinocyte cell-cell adhesion. It is expressed throughout the oral mucosa and in the basal and spinous layers of the cutaneous epidermis. The blistering associated with autoimmune mucosal pemphigus is characterized by antibody-mediated dysfunction of desmoglein-3. However, variants of the DSG3 gene have only been reported once before, in a 1-year-old Korean female with congenital blistering and erosions of the oral and laryngeal mucosa.
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