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1/17/2020 4:08:25 AM | Browse: 622 | Download: 871
Publication Name World Journal of Clinical Cases
Manuscript ID 52524
Country China
Received
2019-11-06 04:25
Peer-Review Started
2019-11-06 04:25
To Make the First Decision
Return for Revision
2019-12-04 11:08
Revised
2019-12-05 14:27
Second Decision
2019-12-19 10:07
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2019-12-22 10:51
Articles in Press
2019-12-22 10:51
Publication Fee Transferred
Edit the Manuscript by Language Editor
2020-01-01 11:22
Typeset the Manuscript
2020-01-13 08:08
Publish the Manuscript Online
2020-01-17 04:08
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) 2020 Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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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 Genetics & Heredity
Manuscript Type Case Report
Article Title OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China
Manuscript Source Unsolicited Manuscript
All Author List Hong-Wen Zhang, Bai-Ge Su and Yong Yao
ORCID
Author(s) ORCID Number
Hong-Wen Zhang http://orcid.org/0000-0003-2735-6384
Bai-Ge Su http://orcid.org/0000-0001-7776-4322
Yong Yao http://orcid.org/0000-0002-5816-6578
Funding Agency and Grant Number
Corresponding Author Hong-Wen Zhang, MD, Department of Pediatric, Peking University First Hospital, No.1 Xi An Men Da Jie, Beijing 100034, China. zhanghongwen@126.com
Key Words Renal failure; Polycystic kidney disease; OFD1 mutation; China; Case report;
Core Tip Oral-facial-digital syndrome type 1 (OFD1) is a rare ciliopathy mainly with an X-linked dominant inheritance, which is caused by mutations in the OFD1 gene. It is reported that approximately 15%–50% cases of OFD1 progress to end-stage renal disease following development of polycystic kidney diseases. The phenotypic spectrum associated with OFD1 mutations has been recently extended with an X-linked recessive inheritance, we reported a childhood male twins who presented only renal failure and polycystic kidney disease caused by OFD1 mutation with an X-linked recessive inheritance in fashion in China.
Publish Date 2020-01-17 04:08
Citation Zhang HW, Su BG, Yong Yao Y. OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China. World J Clin Cases 2020; 8(2): 331-336
URL https://www.wjgnet.com/2307-8960/full/v8/i2/331.htm
DOI https://dx.doi.org/10.12998/wjcc.v8.i2.331
Full Article (PDF) WJCC-8-331.pdf
Full Article (Word) WJCC-8-331.docx
CARE Checklist–2016 52524-CARE-Checklist–2016-revision.pdf
Manuscript File 52524-Review_WangTQ.docx
Answering Reviewers 52524-Answering reviewers.pdf
Audio Core Tip 52524-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 52524-Conflict-of-interest statement.pdf
Copyright License Agreement 52524-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 52524-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 52524-Language certificate.pdf
Peer-review Report 52524-Peer-review(s).pdf
Scientific Misconduct Check 52524-Scientific misconduct check.pdf
Scientific Editor Work List 52524-Scientific editor work list.pdf