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Junctional Epidermolysis Bullosa

Prevalence: 1/100000

dermatologic

Official·OMIM:226700 Official·ORPHA305

Basement membrane blister formation due to LAMB3, LAMA3, or LAMC2 gene mutations.

Associated Genes

LAMB3Laminin Subunit Beta 3

Chromosome 1Autosomal Recessive

LAMA3Laminin Subunit Alpha 3

Chromosome 18Autosomal Recessive

LAMC2Laminin Subunit Gamma 2

Chromosome 1Autosomal Recessive