Epidermolysis bullosa simplex with pyloric atresia (Q106958): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Epidermólise bolhosa simples com atresia pilórica (EBS-PA) é um subtipo basal autossômico recessivo de EBS devido a mutações no gene PLEC, que codifica a plectina. É caracterizada por grave formação de bolhas generalizadas com ausência congênita generalizada de pele e atresia pilórica. | |||
| description / en | description / en | ||
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. | |||
Revision as of 13:57, 17 August 2026
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. |
