Publication Name	World Journal of Clinical Cases
Manuscript ID	99256
Country	China

Received	2024-07-18 09:18
Peer-Review Started	2024-07-18 09:18
To Make the First Decision
Return for Revision	2024-11-15 07:19
Revised	2024-11-25 07:04
Second Decision	2024-12-10 02:39
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2024-12-10 08:15
Articles in Press	2024-12-10 08:15
Publication Fee Transferred	2024-11-26 06:57
Edit the Manuscript by Language Editor
Typeset the Manuscript	2024-12-20 13:06
Publish the Manuscript Online	2024-12-26 07:28

ISSN	2307-8960 (online)
Open Access	This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
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Category	Dermatology
Manuscript Type	Case Report
Article Title	Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Yan Yang, Zhi-Wei Guan and Qin-Feng Li
ORCID	Author(s) ORCID Number Qin-Feng Li http://orcid.org/0000-0002-1200-8566
Funding Agency and Grant Number
Corresponding Author	Qin-Feng Li, Professor, Department of Dermatology, Tianjin Children’s Hospital, No. 225 Machang Road, Hexi District, Tianjin 300074, China. lyz20061217@sina.com
Key Words	Dystrophic epidermolysis bullosa; Frameshift mutation; Genetic testing; COL7A1 gene; Genetic typing; Immunoglobulin; Case report
Core Tip	A new frameshift mutation in the COL7A1 gene caused dystrophic epidermolysis bullosa (DEB). Genetic testing of the patient showed a frameshift mutation in the coding region 4047 of the 35th intron of the COL7A1 gene, which was improved after symptomatic drug treatment. Indicating the role of genetic testing in DEB diagnosis and providing clinical data for DEB gene therapy.
Publish Date	2024-12-26 07:28
Citation	<p>Yang Y, Guan ZW, Li QF. Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report. <i>World J Clin Cases</i> 2025; 13(11): 99256</p>
URL	https://www.wjgnet.com/2307-8960/full/v13/i11/99256.htm
DOI	https://dx.doi.org/10.12998/wjcc.v13.i11.99256

Full Article (PDF)	WJCC-13-99256-with-cover.pdf
CARE Checklist–2016	99256-CARE-Checklist-2016.pdf
Manuscript File	99256_Auto_Edited_074607.docx
Answering Reviewers	99256-answering-reviewers.pdf
Audio Core Tip	99256-audio.mp3
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Peer-review Report	99256-peer-reviews.pdf
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