Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency (Q106954)
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This autosomal recessive basal subtype of epidermolysis bullosa simplex (EBS-AR exophilin 5) is due to an absence of exophilin 5 in basal keratinocytes resulting from mutations in the EXOH5 gene. It is characterised by generalised blistering and crusting with mild mottled pigmentary changes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1267488538 |
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| English | Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency |
This autosomal recessive basal subtype of epidermolysis bullosa simplex (EBS-AR exophilin 5) is due to an absence of exophilin 5 in basal keratinocytes resulting from mutations in the EXOH5 gene. It is characterised by generalised blistering and crusting with mild mottled pigmentary changes. |
