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Epidermolysis bullosa
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
COL7A1
PLEC
MMP1
ITGB4
ITGA6
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
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Curated Studies
Most Correlated Studies
Fibroblasts from recessive dystrophic epidermolysis bullosa (RDEB) patients with and without cSCC
Fibroblasts from skin of twins discordant for recessive dystrophic epidermolysis bullosa phenotypes
Keratinocytes, COL7A1 mutant from recessive dystrophic epidermolysis bullosa (RDEB) patients
Mouse Phenotypes - Metabolic disease
Mouse Phenotypes - Epidermolysis bullosa simplex
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Literature
Most Relevant Literature
A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.
Use of topical morphine gel in epidermolysis bullosa wounds-A series of case studies.
Bloodstream Infection in Children With Epidermolysis Bullosa.
Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the p…
Our experience of using Losartan for esophageal stenosis in children with dystrophic form of congeni…
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Clinical Trials
Most Relevant Clinical Trials
Establishment of the National Epidermolysis Bullosa Registry
Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa
Impact of Complex Care Training of Hereditary Epidermolysis Bullosa on Caregiver Burden (FIREB)
The State of Sexual Development in Children With Inherited Epidermolysis Bullosa
Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa
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