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Articles Published Processes
5/13/2026 8:18:29 AM | Browse: 7 | Download: 39
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Received |
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2025-12-12 00:24 |
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Peer-Review Started |
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2025-12-12 00:24 |
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First Decision by Editorial Office Director |
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2026-01-12 08:36 |
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Return for Revision |
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2026-01-12 08:36 |
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Revised |
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2026-01-25 19:42 |
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Publication Fee Transferred |
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2026-01-26 13:40 |
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Second Decision by Editor |
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2026-02-24 02:47 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2026-02-24 09:00 |
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Articles in Press |
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2026-02-24 09:00 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2026-04-24 00:45 |
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Publish the Manuscript Online |
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2026-05-13 08:18 |
| ISSN |
2219-2808 (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 |
©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc. |
| 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 |
Pediatrics |
| Manuscript Type |
Case Report |
| Article Title |
Novel TMEM63A mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Mongkol Chanvanichtrakool, Pimchanok Kulsirichawaroj, Watanawan Jaito, Theerapong Pho-Iam, Wuttichart Kamolvisit and Surachai Likasitwattanakul |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Surachai Likasitwattanakul, Associate Professor, Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok Noi, Bangkok 10700, Thailand. surachai.lik@mahidol.ac.th |
| Key Words |
Incomplete penetrance; Hypomyelinating leukodystrophy type 19; Hypomyelinating leukodystrophy; TMEM63A; Transient hypomyelination; Case report |
| Core Tip |
Practice-changing diagnostic lesson: In children with early-onset nystagmus, hypotonia, and developmental delay-including hypomyelination syndrome-should be considered. When whole-exome sequencing is nondiagnostic, the appearance of new affected relatives or evolving new phenotype should trigger reanalysis using broader, iteratively refined human phenotype ontology terms, integrated with the suspected inheritance pattern. This strategy improves variant interpretation, increases diagnostic yield, and can ultimately end the diagnostic odyssey. |
| Publish Date |
2026-05-13 08:18 |
| Citation |
Chanvanichtrakool M, Kulsirichawaroj P, Jaito W, Pho-Iam T, Kamolvisit W, Likasitwattanakul S. Novel TMEM63A mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. World J Clin Pediatr 2026; 15(2): 117629 |
| URL |
https://www.wjgnet.com/2219-2808/full/v15/i2/117629.htm |
| DOI |
https://dx.doi.org/10.5409/wjcp.v15.i2.117629 |
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