Acantholytic epidermolysis bullosa (Q99250)
From determinar.ia.br - Determine suas informações
A rare autosomal recessive form of suprabasal epidermolysis bullosa simplex due to mutations in the DSP (6p24) gene encoding desmoplakin, a protein essential for epidermal cohesion. It normally leads to premature death in the neonatal period.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2082436712 |
||
| English | Acantholytic epidermolysis bullosa |
A rare autosomal recessive form of suprabasal epidermolysis bullosa simplex due to mutations in the DSP (6p24) gene encoding desmoplakin, a protein essential for epidermal cohesion. It normally leads to premature death in the neonatal period. |
