Ectodermal dysplasia-skin fragility syndrome: two new cases with a novel missense mutation
J Dtsch Dermatol Ges
.
2021 Apr;19(4):595-597.
doi: 10.1111/ddg.14315.
Epub 2020 Oct 30.
Authors
Carlos Cuenca-Barrales
1
,
María Teresa Monserrat-García
2
,
Javier Jesús Domínguez-Cruz
2
,
Mariona Suñol-Capella
3
,
Teresa Zulueta-Dorado
4
,
Raquel Fernández
5
,
José Manuel Mascaró
6
,
Asunción Vicente
7
,
José Bernabéu-Wittel
2
Affiliations
1
Department of Dermatology, Hospital Universitario San Cecilio, Granada, Spain.
2
Pediatric Dermatology Unit, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
3
Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.
4
Department of Pathology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
5
Department of Genetics, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
6
Department of Dermatology, Hospital Clínic de Barcelona, Barcelona, Spain.
7
Department of Dermatology, Hospital Sant Joan de Déu, Barcelona, Spain.
PMID:
33125806
DOI:
10.1111/ddg.14315
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Ectodermal Dysplasia* / diagnosis
Ectodermal Dysplasia* / genetics
Humans
Mutation
Mutation, Missense / genetics
Skin Diseases*
Supplementary concepts
Ectodermal Dysplasia-Skin Fragility Syndrome