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

Authors

Timothy L Cowan
John P SundbergFollow
Derry C. Roopenian, The Jackson LaboratoryFollow
Thomas J. Sproule, The Jackson LaboratoryFollow
Dédée F Murrell

Document Type

Article

Publication Date

8-1-2024

Original Citation

Cowan T, Sundberg J, Roopenian DC, Sproule TJ, Murrell D. Phenotypic differences in intermediate generalized junctional epidermolysis bullosa with homozygous LAMC2 mutation and a potential genetic modifier. J Eur Acad Dermatol Venereol. 2024;38(8):e719-e21

Keywords

JMG, Female, Humans, Male, Epidermolysis Bullosa, Junctional, Homozygote, Laminin, Mutation, Phenotype

JAX Source

J Eur Acad Dermatol Venereol. 2024;38(8):e719-e21

ISSN

1468-3083

PMID

38376117

DOI

https://doi.org/10.1111/jdv.19859