Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series
Clin Genet
.
2020 Jul;98(1):99-101.
doi: 10.1111/cge.13762.
Epub 2020 May 7.
Authors
Luiza M Mariath
1
,
Juliana T Santin
2
,
Jeanine A Frantz
3
,
Maria J R Doriqui
4
,
Lavínia Schuler-Faccini
1
5
,
Ana E Kiszewski
6
7
Affiliations
1
Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
2
Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
3
DEBRA Brasil, Blumenau, Brazil.
4
Section of Medical Genetics, Hospital Infantil Dr. Juvêncio Mattos, São Luís, Brazil.
5
Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Porto Alegre, Brazil.
6
Section of Dermatology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
7
Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil.
PMID:
32383240
DOI:
10.1111/cge.13762
No abstract available
Publication types
Case Reports
Letter
Research Support, Non-U.S. Gov't
MeSH terms
Epidermolysis Bullosa / genetics*
Humans
Mutation / genetics*
Skin / pathology*