Publication Name	World Journal of Medical Genetics
Manuscript ID	83721
Country	Italy

Received	2023-02-06 12:30
Peer-Review Started	2023-02-08 04:00
To Make the First Decision
Return for Revision	2023-04-28 07:54
Revised	2023-05-03 08:50
Second Decision	2023-05-19 03:04
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2023-05-19 07:50
Articles in Press	2023-05-19 07:50
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2023-05-30 09:27
Publish the Manuscript Online	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/
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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
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
Funding Agency and Grant Number
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
URL	https://www.wjgnet.com/2220-3184/full/v11/i2/21.htm
DOI	https://dx.doi.org/10.5496/wjmg.v11.i2.21

Full Article (PDF)	WJMG-11-21.pdf
Full Article (Word)	WJMG-11-21.docx
Manuscript File	83721_Auto_Edited-LJH-JLW.docx
Answering Reviewers	83721-Answering reviewers.pdf
Audio Core Tip	83721-Audio core tip.mp3
Conflict-of-Interest Disclosure Form	83721-Conflict-of-interest statement.pdf
Copyright License Agreement	83721-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s)	83721-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate	83721-Language certificate.pdf
Supplementary Material	83721-Supplementary material.pdf
Peer-review Report	83721-Peer-review(s).pdf
Scientific Misconduct Check	83721-Bing-Liu JH-2.png
Scientific Misconduct Check	83721-CrossCheck.png
Scientific Editor Work List	83721-Scientific editor work list.pdf
CrossCheck Report	83721-CrossCheck report.pdf