Novel COL7A1 mutation in a family with bullous dermolysis of the newborn: Phenotypic variability associated with a COL7A1 mutation within the same family

J Dermatol. 2018 Sep;45(9):e260-e261. doi: 10.1111/1346-8138.14287. Epub 2018 Mar 25.

Authors

Affiliations

¹ Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
² Department of Dermatology, Niigata University Graduate School of Medicine and Dental Sciences, Niigata, Japan.
³ Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
⁴ Department of Neonatology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan.

PMID: 29574987
DOI: 10.1111/1346-8138.14287

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Collagen Type VII / genetics*
DNA Mutational Analysis
Epidermolysis Bullosa Dystrophica / diagnosis
Epidermolysis Bullosa Dystrophica / genetics*
Epidermolysis Bullosa Dystrophica / pathology
Female
Heterozygote
Humans
Infant, Newborn
Male
Microscopy, Electron
Mutation
Nails / pathology
Nails / ultrastructure
Pedigree
Phenotype
Severity of Illness Index
Skin / pathology
Skin / ultrastructure

Substances

COL7A1 protein, human
Collagen Type VII