Zo voelt het leven als je EB hebt
Subtypes van junctionele EB (JEB)
Most common JEB clinical subtypes |
Targeted protein(s) |
Severe |
Laminin 332a |
Intermediate |
Laminin 332 |
Intermediate |
Type XVII collagen |
With pyloric atresia |
Integrin α6β4 |
Localized |
Laminin 332, type XVII collagen, integrin α6β4, integrin α3 subunit |
Inversa |
Laminin 332 |
Late onset |
Type XVII collagen |
LOC syndrome |
Laminin α3A |
With interstitial lung disease and nephrotic syndrome |
Integrin α3 subunit |
- LOC, laryngo–onycho–cutaneous. aJEB severe is rarely caused by pathogenic variants affecting the type XVII collagen gene; bold, syndromic JEB subtypes.
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