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Articles Published Processes
2/6/2020 2:37:44 AM | Browse: 458 | Download: 1065
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Received |
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2019-11-30 08:16 |
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Peer-Review Started |
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2019-11-30 08:16 |
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To Make the First Decision |
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Return for Revision |
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2019-12-11 23:21 |
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Revised |
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2020-01-03 14:08 |
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Second Decision |
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2020-01-06 09:04 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2020-01-08 17:08 |
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Articles in Press |
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2020-01-08 17:08 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2020-01-14 23:59 |
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Typeset the Manuscript |
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2020-02-03 10:05 |
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Publish the Manuscript Online |
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2020-02-06 02:37 |
| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/ |
| Copyright |
© The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Dermatology |
| Manuscript Type |
Case Report |
| Article Title |
Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ⅰa: A case report and review of literature
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yun-Ling Li, Ting Han and Fang Hong |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Department of Education of Zhejiang Province |
Y201738451 |
| Health and Family Planning Commission of Zhejiang Province |
2016148438 |
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| Corresponding Author |
Fang Hong, PhD, Chief Physician, Director, Director, Department of Genetics and Metabolism, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Bingsheng Road, Hangzhou 310052, Zhejiang Province, China. 6193008@zju.edu.cn |
| Key Words |
Pseudohypoparathyroidism type Ia; Cutaneous nodules; GNAS; Pseudohypoparathyroidism; Case report; |
| Core Tip |
Herein, we describe a Chinese boy with Pseudohypoparathyroidism type Ⅰa who presented with multiple cutaneous nodules at an early stage and who exhibited a c.399delT mutation in the GNAS gene. This mutation was not present in public databases, including Exome Aggregation Consortium, the Genome Aggregation Database, ClinVar, and the Human Gene Mutation Database. Therefore, we concluded that the c.399delT mutation in exon 5 of the GNAS gene was a novel mutation associated with Pseudohypoparathyroidism type Ⅰa. |
| Publish Date |
2020-02-06 02:37 |
| Citation |
Li YL, Han T, Hong F. Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ⅰa: A case report and review of literature. World J Clin Cases 2020; 8(3): 587-593 |
| URL |
https://www.wjgnet.com/2307-8960/full/v8/i3/587.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v8.i3.587 |
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