Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
Mariath LM et al.
Clinical Genetics, 2019
Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment.
Castela E et al.
The British Journal of Dermatology, 2019
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.
Gostyńska KB et al.
Acta Dermato-venereologica, 2017
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut PH et al.
Human Mutation, 2003
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