Phenotypic differences in intermediate generalized junctional epidermolysis bullosa with homozygous LAMC2 mutation and a potential genetic modifier

J Eur Acad Dermatol Venereol. 2024 Aug;38(8):e719-e721. doi: 10.1111/jdv.19859. Epub 2024 Feb 20.

Authors

Timothy L Cowan^{1

2}, John P Sundberg³, Derry C Roopenian³, Thomas J Sproule³, Dédée F Murrell^{1

2}

Affiliations

¹ Department of Dermatology, St George Hospital, Sydney, New South Wales, Australia.
² Faculty of Medicine, UNSW, Sydney, New South Wales, Australia.
³ The Jackson Laboratory, Bar Harbor, Maine, USA.

PMID: 38376117
DOI: 10.1111/jdv.19859

No abstract available

Publication types

Letter
Case Reports

MeSH terms

Epidermolysis Bullosa, Junctional* / genetics
Epidermolysis Bullosa, Junctional* / pathology
Female
Homozygote*
Humans
Laminin* / genetics
Male
Mutation*
Phenotype

Substances

Laminin

Grants and funding

Australian Blistering Disease Foundation