A case of adult‐onset localized recessive dystrophic epidermolysis bullosa, harboring the novel <i>COL7A1</i> mutation p.G2754E and the previously reported mutation p.R1763*-Reference-Cited by-同舟云学术

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A case of adult‐onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763*

Published:2023-10-18 Issue: Volume: Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Akasaka Eijiro¹,Rokunohe Daiki¹^ORCID,Nakano Hajime¹,Yamatani Shingo²,Sawamura Daisuke¹

Affiliation:

1. Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan

2. Kiku Hifuka Dermatology Clinic Hachinohe Japan

Funder

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16993

Reference5 articles.

1. Forty-two novelCOL7A1mutations and the role of a frequent single nucleotide polymorphism in theMMP1promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

2. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

3. Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation

4. An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

5. Late-onset pretibial recessive dystrophic epidermolysis bullosa

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