Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.
Pironon N et al.
European Journal of Human Genetics : Ejhg, 2025
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
Natale MI et al.
American Journal of Medical Genetics. Part A, 2022
Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa.
Aguado T et al.
Cells, 2020
32947957 (PubMed )
Supplement: cells-09-02108-s001.zip › cells-911863_supplementary › Supp_Table_1.xls › Hoja2
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.
Chacón-Solano E et al.
The British Journal of Dermatology, 2019
30693469 (PubMed )
Supplement: BJD-181-512-s003.xlsx › b__Validation_samples
Dystrophic epidermolysis bullosa.
ROCHA G
Anais Brasileiros De Dermatologia E Sifilografia, 1945
[A case of dystrophic bullous epidermolysis with severe hypertrichosis].
COFANO AR
Annali Italiani Di Dermatologia E Sifilografia, 0
[Macular (Mendes da Costa) type of dystrophic epidermolysis bullosa].
SPAGNOLI U et al.
Rassegna Di Dermatologia E Di Sifilografia, 0
A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant.
Amoedo P et al.
Anais Brasileiros De Dermatologia, 0
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