Table 4.

Genes Associated with the Four Major Epidermolysis Bullosa Types

GeneEB TypeMOI
CD151 EBS AR
COL17A1 JEB AR
COL7A1 DEB AD, AR
DST EBS AR
EXPH5 EBS AR
FERMT1 Kindler EB AR
ITGA3 JEB AR
ITGA6 JEB AR
ITGB4 JEB AR
KLHL24 EBS AD
KRT5 EBS AR, AD
KRT14 EBS AR, AD
LAMA3 JEB AR
LAMB3 JEB AR
LAMC2 JEB AR
PLEC EBS AR, AD

Adapted from Has et al [2020], Table 1

AD = autosomal dominant; AR = autosomal recessive; DEB = dystrophic epidermolysis bullosa; EB = epidermolysis bullosa; EBS = epidermolysis bullosa simplex; JEB = junctional epidermolysis bullosa; MOI = mode of inheritance

From: Epidermolysis Bullosa with Pyloric Atresia

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