Acantholytic epidermolysis bullosa (Q99250): Difference between revisions
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| description / pt-br | description / pt-br | ||
Forma autossômica recessiva rara de epidermólise bolhosa simples suprabasal devida a mutações no gene DSP (6p24) que codifica a desmoplaquina, uma proteína essencial para a coesão epidérmica. Normalmente leva à morte prematura no período neonatal. | |||
| description / en | description / en | ||
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. | |||
Revision as of 15:55, 16 August 2026
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 |
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| 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. |
