Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation

Br J Dermatol. 2016 May;174(5):1122-5. doi: 10.1111/bjd.14312. Epub 2016 Feb 3.

Authors

S Turczynski^{1

2

3}, M Titeux^{1

2

3}, N Pironon^{1

2

3}, H I Cohn⁴, D F Murrell⁴, A Hovnanian^{1

2

3

5}

Affiliations

¹ INSERM UMR 1163, Paris, France.
² Imagine Institute, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.
³ University Paris Descartes Sorbonne Cité, Paris, France.
⁴ Department of Dermatology, St George Hospital, University of New South Wales, Sydney, Australia.
⁵ Department of Genetics, Necker Hospital for Sick Children, APHP, Paris, France.

PMID: 26595603
DOI: 10.1111/bjd.14312

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Amino Acid Substitution / genetics*
Child
Collagen Type VII / genetics*
Epidermolysis Bullosa Dystrophica
Glycine / genetics*
Heterozygote
Humans
Male
Mutation / genetics*
Pedigree
Polymorphism, Single Nucleotide / genetics

Substances

COL7A1 protein, human
Collagen Type VII
Glycine