Publication Name	World Journal of Clinical Cases
Manuscript ID	77064
Country	China

Received	2022-04-13 13:56
Peer-Review Started	2022-04-13 13:57
To Make the First Decision
Return for Revision	2022-07-11 09:30
Revised	2022-07-27 00:51
Second Decision	2022-09-13 03:39
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2022-09-14 03:26
Articles in Press	2022-09-14 03:26
Publication Fee Transferred
Edit the Manuscript by Language Editor	2022-09-07 00:11
Typeset the Manuscript	2022-10-08 13:06
Publish the Manuscript Online	2022-10-21 02:24

ISSN	2307-8960 (online)
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Category	Pediatrics
Manuscript Type	Case Report
Article Title	Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Hui Yang, Shuang-Zhu Lin, Shi-Hui Guan, Wan-Qi Wang, Jia-Yi Li, Gui-Dan Yang and Su-Li Zhang
ORCID	Author(s) ORCID Number Hui Yang http://orcid.org/0000-0003-1578-7304 Shuang-Zhu Lin http://orcid.org/0000-0001-5333-2138 Shi-Hui Guan http://orcid.org/0000-0002-9751-8214 Wan-Qi Wang http://orcid.org/0000-0002-8247-7616 Jia-Yi Li http://orcid.org/0000-0002-7729-4479 Gui-Dan Yang http://orcid.org/0000-0003-1812-9956 Su-Li Zhang http://orcid.org/0000-0001-5887-1026
Funding Agency and Grant Number
Corresponding Author	Su-Li Zhang, MD, Doctor, Department of Neonatology, Hainan Women and Children's Medical Center, No. 15 Longkun South Road, Haikou 570100, Hainan Province, China. 18389454649@163.com
Key Words	Arthrogryposis, renal dysfunction and cholestasis syndrome 1; VPS33B gene; Children; Heterozygous mutation; Case report
Core Tip	We report a Chinese female infant with neonatal cholestasis disorder, who was eventually diagnosed with arthrogryposis, renal dysfunction and cholestasis syndrome 1 by genetic analysis. Genetic testing revealed two new mutations (c.96+1G>C, c.242delT) in VPS33B, which are the causal genes. The patient was compound heterozygous, and her parents were both heterozygous. Our paper will expand the mutational spectrum of VPS33B.
Publish Date	2022-10-21 02:24
Citation	Yang H, Lin SZ, Guan SH, Wang WQ, Li JY, Yang GD, Zhang SL. Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report. World J Clin Cases 2022; 10(30): 11016-11022
URL	https://www.wjgnet.com/2307-8960/full/v10/i30/11016.htm
DOI	https://dx.doi.org/10.12998/wjcc.v10.i30.11016

Full Article (PDF)	WJCC-10-11016.pdf
Full Article (Word)	WJCC-10-11016.docx
Manuscript File	77064_Auto_Edited-HZ-Filipodia-JLW.docx
Answering Reviewers	77064-Answering reviewers.pdf
Audio Core Tip	77064-Audio core tip.mp3
Conflict-of-Interest Disclosure Form	77064-Conflict-of-interest statement.pdf
Copyright License Agreement	77064-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s)	77064-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate	77064-Language certificate.pdf
Peer-review Report	77064-Peer-review(s).pdf
Scientific Editor Work List	77064-Scientific editor work list.pdf