Publication Name	World Journal of Clinical Cases
Manuscript ID	62415
Country	China

Received	2021-02-23 13:15
Peer-Review Started	2021-02-23 13:25
To Make the First Decision
Return for Revision	2021-05-11 21:11
Revised	2021-05-19 12:23
Second Decision	2021-07-07 12:55
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2021-07-07 13:26
Articles in Press	2021-07-07 13:26
Publication Fee Transferred
Edit the Manuscript by Language Editor	2021-07-15 00:52
Typeset the Manuscript	2021-08-16 15:49
Publish the Manuscript Online	2021-08-24 02:07

ISSN	2307-8960 (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	Pediatrics
Manuscript Type	Case Report
Article Title	Geleophysic dysplasia caused by a mutation in FBN1: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Ying Tao, Qing Wei, Xun Chen and Guang-Min Nong
ORCID	Author(s) ORCID Number Ying Tao http://orcid.org/0000-0001-7474-5089 Qing Wei http://orcid.org/0000-0003-2319-164X Xun Chen http://orcid.org/0000-0001-6937-755X Guang-Min Nong http://orcid.org/0000-0003-4862-4480
Funding Agency and Grant Number
Corresponding Author	Guang-Min Nong, MD, Professor, Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, No. 6 Shuangyong Road, Nanning 530021, Guangxi Zhuang Autonomous Region, China. ngm8525@163.com
Key Words	Fibrillin 1; Geleophysic dysplasia; Acromelic dysplasia; Short stature; Tracheal stenosis; Case report
Core Tip	We aim to report a 9-year-old girl with geleophysic dysplasia (GD) with mutation c.5243G>T (p.C1748F) in FBN1. Other than the patient we reported, a total of 9 acromelic dysplasia cases due to mutations in c.5242T, c.5243G or c.5244T of FBN1 has been reported, which all are predicted to result in the substitution of cysteine at codon 1748. This study also found that the identified genotype of GD could be related to different clinical phenotypes.
Publish Date	2021-08-24 02:07
Citation	Tao Y, Wei Q, Chen X, Nong GM. Geleophysic dysplasia caused by a mutation in FBN1: A case report. World J Clin Cases 2021; 9(24): 7175-7180
URL	https://www.wjgnet.com/2307-8960/full/v9/i24/7175.htm
DOI	https://dx.doi.org/10.12998/wjcc.v9.i24.7175

Full Article (PDF)	WJCC-9-7175.pdf
Full Article (Word)	WJCC-9-7175.docx
Manuscript File	62415_Review-FilipodiaCL.docx
Answering Reviewers	62415-Answering reviewers.pdf
Audio Core Tip	62415-Audio core tip.MP3
Conflict-of-Interest Disclosure Form	62415-Conflict-of-interest statement.pdf
Copyright License Agreement	62415-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s)	62415-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate	62415-Language certificate.pdf
Peer-review Report	62415-Peer-review(s).pdf
Scientific Misconduct Check	62415-Bing-Wang JL-1.jpg
Scientific Misconduct Check	62415-Scientific misconduct check.pdf
Scientific Editor Work List	62415-Scientific editor work list.pdf
Scientific Editor Work List	62415-Bing-Liu M-2.png
CrossCheck Report	62415-CrossCheck report.pdf