A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant

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Amoedo, Patrícia, et al. “A Case of Dystrophic Epidermolysis Bullosa With a Rare COL7A1 Variant”. Anais Brasileiros De Dermatologia, vol. 99, no. 3, 2024, pp. 448-9, https://doi.org/10.1016/j.abd.2022.09.020.
Amoedo, P., Grangeia, A., Peralta, L., & Mota, A. (2024). A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant. Anais Brasileiros De Dermatologia, 99(3), 448-449. https://doi.org/10.1016/j.abd.2022.09.020
Amoedo P, Grangeia A, Peralta L, Mota A. A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant. Anais Brasileiros de Dermatologia. 2024;99(3):448-9.
Refrences
Title Journal Journal Categories Citations Publication Date
Inherited epidermolysis bullosa: update on the clinical and genetic aspects Anais Brasileiros de Dermatologia
  • Medicine: Dermatology
  • Medicine: Medicine (General)
  • Medicine: Dermatology
44 2020
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

Clinical Genetics
  • Medicine: Medicine (General): Medical technology
  • Science: Biology (General): Genetics
  • Science: Biology (General): Genetics
  • Medicine: Medicine (General)
22 2019
Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes

Pediatric Dermatology
  • Medicine: Dermatology
  • Medicine: Pediatrics
  • Medicine: Medicine (General)
3 2018
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

Experimental Dermatology
  • Medicine: Medicine (General)
  • Medicine: Dermatology
138 2008
Refrences Analysis
The category Medicine: Medicine (General) 4 is the most frequently represented among the references in this article. It primarily includes studies from Clinical Genetics and Experimental Dermatology. The chart below illustrates the number of referenced publications per year.
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