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Articles Published Processes
1/17/2020 4:08:25 AM | Browse: 750 | Download: 1277
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Received |
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2019-11-06 04:25 |
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Peer-Review Started |
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2019-11-06 04:25 |
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To Make the First Decision |
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Return for Revision |
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2019-12-04 11:08 |
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Revised |
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2019-12-05 14:27 |
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Second Decision |
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2019-12-19 10:07 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2019-12-22 10:51 |
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Articles in Press |
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2019-12-22 10:51 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2020-01-01 11:22 |
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Typeset the Manuscript |
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2020-01-13 08:08 |
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Publish the Manuscript Online |
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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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Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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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
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Hong-Wen Zhang, Bai-Ge Su and Yong Yao |
ORCID |
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Funding Agency and Grant Number |
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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 |
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