C210893Level 8
Severe Junctional Epidermolysis Bullosa 3B
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive condition caused by mutation(s) in the LAMC2 gene, encoding laminin subunit gamma-2. It is characterized by severe skin blisters and erosions and is often fatal.
**Synonyms:** - Generalized Severe Epidermolysis Bullosa - JEB-H - JEB3B - Junctional Epidermolysis Bullosa Type Herlitz
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