Late-onset pretibial recessive dystrophic epidermolysis bullosa
Author:
Affiliation:
1. Department of Dermatology; Royal Free Hospital; London; UK
2. St John's Institute of Dermatology; King's College London; London; UK
3. Department of Pathology; Royal Free Hospital; London; UK
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12072/fullpdf
Reference8 articles.
1. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008
2. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression;McGrath;J Invest Dermatol,1993
3. Epidermolysis traumatica, regionar uber beiden Tibiae zur Atrophie fuhrend, mit dominanter Vererbung;Kuske;Dermatologica,1946
4. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features;McGrath;Br J Dermatol,1994
5. Pretibial epidermolysis bullosa: a clinicopathologic study;Lee;J Am Acad Dermatol,1993
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1. A case of adult‐onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763*;The Journal of Dermatology;2023-10-18
2. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16
3. Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa;International Journal of Dermatology;2022-09-13
4. Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?;Journal of Assisted Reproduction and Genetics;2022-01-29
5. Otological complications in inversa type recessive dystrophic epidermolysis bullosa;Clinical and Experimental Dermatology;2022-01-05
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