An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred
Author:
Affiliation:
1. Department of Dermatology
2. Department of Genetics
3. Howard Hughes Medical Institute, School of Medicine, Yale University, New Haven, Connecticut
4. Department of Pathology
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1525-1470.2012.01757.x
Reference32 articles.
1. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features
2. Epidermolysis bullosa pruriginosa in association with lichen planopilaris
3. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization
4. Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa
5. Dystrophic epidermolysis bullosa pruriginosa of elderly onset
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