Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa

J Invest Dermatol. 2018 Apr;138(4):987-991. doi: 10.1016/j.jid.2017.11.014. Epub 2017 Nov 24.

Authors

Nadja Chmel¹, Olivier Bornert¹, Ingrid Hausser², Gabriele Grüninger¹, Wiktor Borozkin³, Jürgen Kohlhase³, Alexander Nyström¹, Cristina Has⁴

Affiliations

¹ Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
² Institute of Pathology, University Hospital Heidelberg, Germany.
³ SYNLAB Center for Human Genetics, Freiburg, Germany.
⁴ Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address: [email protected].

PMID: 29179948
DOI: 10.1016/j.jid.2017.11.014

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Collagen Type VII / genetics*
Collagen Type VII / metabolism
DNA / genetics*
Epidermolysis Bullosa Dystrophica / diagnosis
Epidermolysis Bullosa Dystrophica / genetics*
Epidermolysis Bullosa Dystrophica / metabolism
Female
Humans
Male
Pedigree
Sequence Deletion*

Substances

Collagen Type VII
DNA