Acantholytic epidermolysis bullosa (Q99250): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| (4 intermediate revisions by the same user not shown) | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_2082436712 | |||||||||||||||
| Property / CURIE: CID11:ID_2082436712 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_2082436712 | |||||||||||||||
| Property / Canary Token: dki-india-ID_2082436712 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
15 August 2026
| |||||||||||||||
| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest 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 |
||
| 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. |
Statements
CID11:ID_2082436712
0 references
dki-india-ID_2082436712
0 references
Concluído
0 references
15 August 2026
0 references
