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3/14/2026 4:49:31 AM | Browse: 35 | Download: 88
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Received |
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2025-06-20 02:19 |
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Peer-Review Started |
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2025-06-20 02:19 |
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First Decision by Editorial Office Director |
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2025-07-14 07:35 |
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Return for Revision |
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2025-07-14 07:35 |
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Revised |
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2025-07-28 09:06 |
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Publication Fee Transferred |
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Second Decision by Editor |
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2026-01-05 02:41 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2026-01-06 02:57 |
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Articles in Press |
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2026-01-06 02:57 |
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Edit the Manuscript by Language Editor |
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2026-01-09 00:39 |
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Typeset the Manuscript |
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2026-03-10 00:39 |
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Publish the Manuscript Online |
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2026-03-14 04:49 |
| ISSN |
2220-6124 (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: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2026. 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 |
Biochemistry & Molecular Biology |
| Manuscript Type |
Case Report |
| Article Title |
Familial WT1-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature
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| Manuscript Source |
Invited Manuscript |
| All Author List |
Mahipal H Khandelwal, Kiran G Piparva and Deepak Parchwani |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Deepak Parchwani, PhD, Professor, Department of Biochemistry, All India Institute of Medical Sciences, AIIMS Rajkot, Village Khandheri, Tehsil Paddhari, Rajkot 360001, Gujarāt, India. hodbiochem@aiimsrajkot.edu.in |
| Key Words |
Frasier syndrome; Pediatric; Steroid-resistant nephrotic syndrome; Karyotype; WT1 mutation; Case report |
| Core Tip |
This report describes two siblings with identical pathogenic Wilms tumor 1 but distinct karyotypes (46, XY and 46, XX) leading to divergent clinical presentations. The elder sibling had classical features with early-onset steroid-resistant nephrotic syndrome with rapidly deteriorating renal function, while the younger sibling presented with steroid-resistant nephrotic syndrome only without gonadal abnormalities. This rare familial occurrence emphasises sex-dependent phenotypic variability despite identical mutations, expanding understanding of Wilms tumor 1-related disorders. The findings underscore the importance of genetic testing, detailed family evaluation, and long-term monitoring to guide management in such rare syndromic presentations. |
| Publish Date |
2026-03-14 04:49 |
| Citation |
Khandelwal MH, Piparva KG, Parchwani D. Familial WT1-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. World J Nephrol 2026; 15(1): 110867
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| URL |
https://www.wjgnet.com/2220-6124/full/v15/i1/110867.htm |
| DOI |
https://dx.doi.org/10.5527/wjn.v15.i1.110867 |
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