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©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
A three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated ANKH gene
Jia-Li Wu, Xiao-Li Li, Shu-Mei Chen, Xiao-Ping Lan, Jin-Jin Chen, Xiao-Yan Li, Wei Wang
Jia-Li Wu, Shu-Mei Chen, Xiao-Yan Li, Department of Otolaryngology and Head and Neck Surgery, Shanghai Children’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China
Xiao-Li Li, Department of Radiation Oncology, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200032, China
Xiao-Ping Lan, Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China
Jin-Jin Chen, Department of Child Healthcare, Shanghai Children’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China
Wei Wang, Shanghai AhCare Consulting, Shanghai 20120, China
Author contributions: Wu JL and Li XY were the patient’s otolaryngologists, reviewed the literature and contributed to manuscript drafting; Li XL was the patient’s radiologist, performed the patient’s radiography and interpreted the image findings at the Shanghai Children’s Hospital; Chen SM reviewed the literature and contributed to the follow-up of the patient; Lan XP performed the genetic analysis and database search; Chen JJ was the pediatrician, reviewed the case and followed up the patient; Wang W was the clinical geneticist, responsible for the analysis and interpretation of the gene testing results; Li XY and Wang W were responsible for the revision of the manuscript for important intellectual content and approval of the manuscript; Li XY and Wang W are co-corresponding authors; all authors issued final approval for the submission of this article.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare no conflict of interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Wei Wang, MD, MPH, PhD, Shanghai AhCare Consulting, No. 500 Furonghua Road, Pudong New District, Shanghai 20120, China. angei200598@126.com
Received: August 12, 2020
Peer-review started: August 12, 2020
First decision: December 8, 2020
Revised: December 31, 2020
Accepted: January 23, 2021
Article in press: January 23, 2021
Published online: March 16, 2021