Publication Name	World Journal of Clinical Cases
Manuscript ID	86172
Country	China

Received	2023-07-11 22:43
Peer-Review Started	2023-07-11 22:46
To Make the First Decision
Return for Revision	2023-08-04 06:41
Revised	2023-08-21 13:53
Second Decision	2023-09-08 03:00
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2023-09-11 08:47
Articles in Press	2023-09-11 08:47
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2023-09-13 07:55
Publish the Manuscript Online	2023-09-25 11:20

ISSN	2307-8960 (online)
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Category	Genetics & Heredity
Manuscript Type	Case Report
Article Title	Multi-organ hereditary hemorrhagic telangiectasia: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Ying-Ling Chen, Hong-Yue Jiang, Dong-Ping Li, Jiang Lin, Yun Chen, Li-Li Xu and Hong Gao
ORCID	Author(s) ORCID Number Hong Gao http://orcid.org/0000-0002-2263-9214
Funding Agency and Grant Number
Corresponding Author	Hong Gao, MD, Doctor, Doctor, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Shanghai 200032, China. gao.hong@zs-hospital.sh.cn
Key Words	Hereditary hemorrhagic telangiectasia; Pedigree; ALK1; Gene mutation; Case report
Core Tip	Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease characterized by varying degrees of bleeding symptoms. The diagnosis of HHT is difficult when relying on bleeding symptoms, while gene testing is robust and reliable for identifying HHT patients. Here, we report a patient with type 2 HHT who was undiagnosed for HHT for years due to varied symptoms involving multiple organs. We found an ALK1 gene mutation in the patient and her family members. We further verified the pathogenic role of this mutation in inducing vascular malformation by basic research studies.
Publish Date	2023-09-25 11:20
Citation	Chen YL, Jiang HY, Li DP, Lin J, Chen Y, Xu LL, Gao H. Multi-organ hereditary hemorrhagic telangiectasia: A case report. World J Clin Cases 2023; 11(28): 6831-6840
URL	https://www.wjgnet.com/2307-8960/full/v11/i28/6831.htm
DOI	https://dx.doi.org/10.12998/wjcc.v11.i28.6831

Full Article (PDF)	WJCC-11-6831-with-cover.pdf
Full Article (Word)	WJCC-11-6831.docx
CARE Checklist–2016	86172-CARE Checklist (2016).pdf
Manuscript File	86172_Auto_Edited-JLW.docx
Answering Reviewers	86172-Answering reviewers.pdf
Audio Core Tip	86172-Audio core tip.mp3
Conflict-of-Interest Disclosure Form	86172-Conflict-of-interest statement.pdf
Copyright License Agreement	86172-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s)	86172-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate	86172-Language certificate.pdf
Peer-review Report	86172-Peer-review(s).pdf
Scientific Misconduct Check	86172-Bing-Chen YL-2.png
Scientific Editor Work List	86172-Scientific editor work list.pdf
CrossCheck Report	86172-CrossCheck report.pdf