Novel mutation c.2090_2091del in neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities in an 18.5-mo-old boy: A case report
Yi Li, College of Pediatrics, Henan University of Chinese Medicine, Zhengzhou 450000, Henan Province, China
Zheng Zhou, Yan Xu, Zhi-Ru Wang, Department of Pediatrics, The First Affiliated Hospital, Henan University of Chinese Medicine, Zhengzhou 450000, Henan Province, China
Author contributions: Li Y acquisition of clinical data, interpretation of data and writing-review and editing, analysis of the bioinformatics data; Zhou Z design of the work, acquisition of clinical data; Xu Y and Wang ZR evaluation and care of the patient; and all authors wrote this manuscript.
Supported by the National Natural Science Foundation of China, No. 82205190; and the Foundation for Distinguished Young Talents in Higher Education of Henan, No. 16.
Informed consent statement: The patient’s family provided informed written consent prior to study enrollment for publication of this case report.
Conflict-of-interest statement: All authors report no relevant conflicts of interest for this article.
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).
: 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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Zheng Zhou, Doctor, Chief Physician, Department of Pediatrics, The First Affiliated Hospital, Henan University of Chinese Medicine, No. 19 Renmin Road, Jinshui District, Zhengzhou 450000, Henan Province, China. Czj6799@126.com
Received: March 14, 2023
Peer-review started: March 14, 2023
First decision: March 28, 2023
Revised: April 6, 2023
Accepted: April 14, 2023
Article in press: April 14, 2023
Published online: June 6, 2023