Epidermolysis bullosa simplex with pyloric atresia (Q106958)
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Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is an autosomal recessive basal subtype of EBS due to mutations in the PLEC gene encoding plectin. It is characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1648939146 |
||
| English | Epidermolysis bullosa simplex with pyloric atresia |
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is an autosomal recessive basal subtype of EBS due to mutations in the PLEC gene encoding plectin. It is characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. |
Statements
CID11:ID_1648939146
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