Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
Author:
Affiliation:
1. Department of Dermatology Yamagata University Faculty of Medicine Yamagata Japan
2. Department of Dermatology and Plastic Surgery Faculty of Life Sciences Kumamoto University Kumamoto Japan
Funder
Japan Society for the Promotion of Science
Kao Corporation
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.14788
Reference5 articles.
1. Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease
2. Epidermolysis Bullosa Simplex with Mottled Pigmentation: A Family Report and Review
3. The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation
4. Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex
5. Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation inKRT5in four affected family members
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1. Exon 8 deletion of KRT5 in epidermolysis bullosa simplex with mottled pigmentation: A case report;The Journal of Dermatology;2023-09-02
2. Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families;Frontiers of Medicine;2022-03-21
3. A 12‐year‐old boy with past history of acral blisters;Pediatric Dermatology;2020-09
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