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Articles Published Processes
12/2/2015 11:52:00 AM | Browse: 1264 | Download: 1622
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Received |
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2014-11-29 13:14 |
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Peer-Review Started |
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2014-11-29 15:20 |
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To Make the First Decision |
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2015-02-07 14:48 |
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Return for Revision |
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2015-02-11 19:16 |
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Revised |
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2015-02-27 23:46 |
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Second Decision |
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2015-05-08 17:41 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2015-05-18 17:17 |
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Articles in Press |
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2015-05-18 17:17 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2015-07-09 17:15 |
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Publish the Manuscript Online |
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2015-07-27 18:31 |
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/
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Copyright |
© The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
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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 |
Genetics & Heredity |
Manuscript Type |
Review |
Article Title |
From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders
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Manuscript Source |
Invited Manuscript |
All Author List |
Eva YG De Vilder and Olivier M Vanakker |
Funding Agency and Grant Number |
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Corresponding Author |
Vanakker M Olivier, MD, PhD, Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, East Flanders,
Belgium. olivier.vanakker@ugent.be
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Key Words |
Ectopic mineralization; Pseudoxanthoma elasticum; Pseudoxanthoma elasticum-like syndrome; Generalized arterial calcification of infancy; Keutel syndrome; Idiopathic basal ganglia calcification; Arterial calcification due to CD73 deficiency; Hyperphosphatemic familial tumoral calcinosis; Etiology; Phenotype |
Core Tip |
Ectopic mineralization disorders represent a broad range of phenotypically heterogenous diseases, often leading to significant morbidity and mortality. Involving a complex interplay between different pro-osteogenic mediators and inhibitors of calcification, the mechanisms of ectopic mineralization are progressively being unveiled. Though current knowledge is beyond any doubt the tip of the proverbial iceberg, insights already have significant implications in the diagnosis and daily management of these patients. As such, ectopic mineralization diseases are a fine example of translating variome data to the clinic. Here, we will discuss prototype hereditary ectopic calcification diseases with respect to their presentation, diagnosis and management. |
Publish Date |
2015-07-27 18:31 |
Citation |
De Vilder EYG, Vanakker OM. From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders. World J Clin Cases 2015; 3(7): 556-574 |
URL |
http://www.wjgnet.com/2307-8960/full/v3/i7/556.htm |
DOI |
http://dx.doi.org/10.12998/wjcc.v3.i7.556 |
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