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8/16/2018 11:54:24 AM | Browse: 850 | Download: 1069
Publication Name World Journal of Clinical Cases
Manuscript ID 38860
Country China
Received
2018-03-21 09:23
Peer-Review Started
2018-03-21 09:34
To Make the First Decision
2018-04-13 03:19
Return for Revision
2018-04-18 10:35
Revised
2018-04-23 13:37
Second Decision
2018-05-11 10:44
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2018-05-13 16:14
Articles in Press
2018-05-13 16:14
Publication Fee Transferred
Edit the Manuscript by Language Editor
2018-06-21 00:15
Typeset the Manuscript
2018-08-14 13:14
Publish the Manuscript Online
2018-08-16 11:54
ISSN 2307-8960 (online)
Open Access This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
Copyright © The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Gastroenterology & Hepatology
Manuscript Type Case Report
Article Title Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature
Manuscript Source Unsolicited Manuscript
All Author List Fu-Xiao Duan, Guo-Li Gu, Hai-Rui Yang, Peng-Fei Yu and Zhi Zhang
ORCID
Author(s) ORCID Number
Fu-Xiao Duan http://orcid.org/0000-0002-3224-9017
Guo-Li Gu http://orcid.org/0000-0002-9998-047X
Hai-Rui Yang http://orcid.org/0000-0003-2768-8493
Peng-Fei Yu http://orcid.org/0000-0002-0528-1839
Zhi Zhang http://orcid.org/0000-0001-5870-1940
Funding Agency and Grant Number
Funding Agency Grant Number
Major Projects of Chinese PLA “13th Five-Year Plan” Logistics Research Subject AKJ15J003
Corresponding Author Guo-Li Gu, MD, MSc, Assistant Professor, Doctor, Department of General Surgery, Air Force General Hospital of Chinese PLA, No.30, Fucheng Road, Haidian District, Beijing 100142, China. kzggl@163.com
Key Words Peutz-Jeghers syndrome; Gastrointestinal polyps; High-throughput sequencing; LKB1/STK11; APC; MSH6; Hamartoma
Core Tip The germline mutation of LKB1/STK11 gene on chromosome 19p13.3 is considered to be the hereditary cause of Peutz-Jeghers syndrome (PJS). We report a male PJS patient, who had typical manifestations and a definite family history, and but did not have LKB1/STK11 gene mutation. By means of high-throughput sequencing technology, only mutations in APC gene (c.6662T > C: p.Met2221Thr) and MSH6 gene (c.3488A > T: p.Glu1163Val) were detected in this case. This study suggests that some other genetic disorders may cause PJS besides LKB1/STK11 gene mutation.
Publish Date 2018-08-16 11:54
Citation Duan FX, Gu GL, Yang HR, Yu PF, Zhang Z. Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature. World J Clin Cases 2018; 6(8): 224-232
URL http://www.wjgnet.com/2307-8960/full/v6/i8/224.htm
DOI http://dx.doi.org/10.12998/wjcc.v6.i8.224
Full Article (PDF) WJCC-6-224.pdf
Full Article (Word) WJCC-6-224.doc
CARE Checklist–2016 38860-CARE checklist (2013) .pdf
Manuscript File 38860-Review.docx
Answering Reviewers 38860-Answering reviewers.pdf
Audio Core Tip 38860-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 38860-Conflict-of-interest statement.pdf
Copyright License Agreement 38860-Copyright assignment.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 38860-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 38860-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 38860-Language certificate.pdf
Supplementary Material 38860-Supplementary-Material-revision.pdf
Peer-review Report 38860-Peer-review(s).pdf
Scientific Editor Work List 38860-Scientific editor work list.pdf