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Articles Published Processes
6/2/2023 7:10:15 AM | Browse: 533 | Download: 1196
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Received |
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2023-02-06 12:30 |
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Peer-Review Started |
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2023-02-08 04:00 |
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First Decision by Editorial Office Director |
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2023-04-28 07:54 |
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Return for Revision |
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2023-04-28 07:54 |
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Revised |
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2023-05-03 08:50 |
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Publication Fee Transferred |
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Second Decision by Editor |
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2023-05-19 03:04 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2023-05-19 07:50 |
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Articles in Press |
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2023-05-19 07:50 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2023-05-30 09:27 |
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Publish the Manuscript Online |
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2023-06-02 07:10 |
| ISSN |
2220-3184 (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) 2023. 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 |
Endocrinology & Metabolism |
| Manuscript Type |
Case Report |
| Article Title |
Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Roberto Franceschi, Francesca Rivieri, Antonio Novelli, Daniele Ferretti, Adriano Anesi, Massimo Soffiati, Giulia Porretti, Evelina Maines, Mafalda Mucciolo and Giorgio Radetti |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Evelina Maines, MD, Doctor, Doctor, Department of Pediatrics, S. Chiara Hospital, S. Chiara Hospital, Largo Medaglie d’Oro, 9, Trento 38122, Italy. evelina.maines@apss.tn.it |
| Key Words |
ANKRD11; KBG; Mosaic; HESX1; Child; Case report |
| Core Tip |
Somatic mosaicisms of KBG syndrome are usually recognized in the parents only after a typically affected son is diagnosed. We report for the first time the case of a somatic mosaicism for KBG syndrome diagnosed in a child with a mild and non-specific phenotype. The increased use of next generation sequencing allows a genetic diagnosis of this mosaic form in children expanding the phenotypic spectrum of the KBG syndrome. |
| Publish Date |
2023-06-02 07:10 |
| Citation |
Franceschi R, Rivieri F, Novelli A, Ferretti D, Anesi A, Soffiati M, Porretti G, Maines E, Mucciolo M, Radetti G. Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype: A case report. World J Med Genet 2023; 11(2): 21-27
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| URL |
https://www.wjgnet.com/2220-3184/full/v11/i2/21.htm |
| DOI |
https://dx.doi.org/10.5496/wjmg.v11.i2.21 |
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