Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations

Br J Dermatol. 2021 May;184(5):960-962. doi: 10.1111/bjd.19752. Epub 2021 Mar 1.

Authors

A L Hérissé¹, A Charlesworth¹, N Bellon², S Leclerc-Mercier², E Bourrat³, S Hadj-Rabia², C Bodemer², J P Lacour¹, C Chiaverini¹

Affiliations

¹ Departments of Dermatology, Referral Center for Genodermatoses, Department of Dermatology, Referral Center for Genodermatoses, Centre Hospitalier Universitaire de Nice, Nice.
² Department of Dermatology, Referral Center for Genodermatoses, Necker Enfants Malades Hospital, Paris.
³ Department of Dermatology, Referral Center for Genodermatoses, Saint Louis Hospital, APHP Paris, France.

PMID: 33393081
DOI: 10.1111/bjd.19752

No abstract available

Publication types

Letter

MeSH terms

Autoantigens
Collagen Type XVII
Epidermolysis Bullosa* / genetics
Epidermolysis Bullosa, Junctional* / genetics
Genotype
Humans
Mutation / genetics
Non-Fibrillar Collagens / genetics

Substances

Autoantigens
Non-Fibrillar Collagens

Grants and funding

Debra France