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1/26/2023 5:44:49 PM | Browse: 137 | Download: 257
Publication Name World Journal of Clinical Cases
Manuscript ID 81694
Country China
Received
2022-11-23 14:20
Peer-Review Started
2022-11-23 14:22
To Make the First Decision
Return for Revision
2022-12-13 10:03
Revised
2022-12-23 05:56
Second Decision
2023-01-03 03:33
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2023-01-05 02:08
Articles in Press
2023-01-05 02:08
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2023-01-10 07:11
Publish the Manuscript Online
2023-01-26 17:44
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: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright ©The Author(s) 2023. 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 Endocrinology & Metabolism
Manuscript Type Case Report
Article Title Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report
Manuscript Source Unsolicited Manuscript
All Author List Hong-Ping Gong, Yan Ren, Pan-Pan Zha, Wen-Yan Zhang, Jin Zhang, Zhi-Wen Zhang and Chun Wang
ORCID
Author(s) ORCID Number
Hong-Ping Gong http://orcid.org/0000-0001-5906-2650
Wen-Yan Zhang http://orcid.org/0000-0001-6612-6878
Chun Wang http://orcid.org/0000-0002-7069-6395
Funding Agency and Grant Number
Funding Agency Grant Number
Science and Technology Plan Program of Sichuan of China 2018JY0608
Corresponding Author Chun Wang, Doctor, PhD, Chief Doctor, Department of Endocrinology and Metabolism, Sichuan University West China Hospital, No. 37 Guoxue Lane, Chengdu 610041, Sichuan Province, China. snoopywc@163.com
Key Words Osteopetrosis; Autosomal dominant osteopetrosis type II; Diagnosis; Genetic analysis; Case report
Core Tip Autosomal dominant osteopetrosis (ADO-II) is an autosomal dominant form of osteopetrosis. In ADO-II patients, the clinical spectrum ranges from nonsymptomatic to recurrent fractures, anemia, and a favorable prognosis. We reported a 53-year-old female patient with persistent joint pain, who was accidentally diagnosed with ADO-II at a later age. Her asymptomatic daughter was also diagnosed with ADO-II, as confirmed by whole exome sequencing.
Publish Date 2023-01-26 17:44
Citation Gong HP, Ren Y, Zha PP, Zhang WY, Zhang J, Zhang ZW, Wang C. Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report. World J Clin Cases 2023; 11(3): 700-708
URL https://www.wjgnet.com/2307-8960/full/v11/i3/700.htm
DOI https://dx.doi.org/10.12998/wjcc.v11.i3.700
Full Article (PDF) WJCC-11-700.pdf
Full Article (Word) WJCC-11-700.docx
CARE Checklist–2016 81694-CARE-Checklist–2016-revision.pdf
Manuscript File 81694_Auto_Edited-JLW.docx
Answering Reviewers 81694-Answering reviewers.pdf
Audio Core Tip 81694-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 81694-Conflict-of-interest statement.pdf
Copyright License Agreement 81694-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 81694-Grant application form(s).pdf
Signed Consent for Treatment Form(s) or Document(s) 81694-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 81694-Language certificate.pdf
Supplementary Material 81694-Supplementary material.pdf
Peer-review Report 81694-Peer-review(s).pdf
Scientific Misconduct Check 81694-Bing-Wang LL-2.png
Scientific Editor Work List 81694-Scientific editor work list.pdf