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

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.

Case Reports

S Turczynski et al. Br J Dermatol. 2016 May.

. 2016 May;174(5):1122-5.

doi: 10.1111/bjd.14312. Epub 2016 Feb 3.

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}

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.

No abstract available

Publication types