Features include always present findings: Abnormal nail morphology, Lamina lucida cleavage, Abnormal blistering of the skin, and Oral mucosal blisters.

LAMC2 encodes laminin subunit gamma 2 (1,193 aa). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Highest expression in Skin Not Sun Exposed Suprapubic (23.5 TPM) and Lung (22.2 TPM).

Epidermolysis bullosa, junctional 3B, severe is associated with mutations in the LAMC2 gene on chromosome 1.

LAMC2 is classified as a druggable target (Druggable Genome category) with score 1.4.

Genetic testing for LAMC2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features.