A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant-Reference-Cited by-同舟云学术

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A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant

Published:2024-05 Issue:3 Volume:99 Page:448-449
ISSN:0365-0596
Container-title:Anais Brasileiros de Dermatologia
language:en
Short-container-title:Anais Brasileiros de Dermatologia

Author:

Amoedo Patrícia^ORCID,Grangeia Ana^ORCID,Peralta Lígia^ORCID,Mota Alberto^ORCID

Publisher

Elsevier BV

Reference4 articles.

1. An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants;Mariath;Clin Genet,2019

2. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa;Dang;Exp Dermatol,2008

3. Inherited epidermolysis bullosa: update on the clinical and genetic aspects;Mariath;An Bras Dermatol,2020

4. Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes;Knöpfel;Pediatr Dermatol,2018

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