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12/2/2015 11:52:00 AM | Browse: 1105 | Download: 1256
Publication Name World Journal of Clinical Cases
Manuscript ID 15578
Country/Territory
Received
2014-11-29 13:14
Peer-Review Started
2014-11-29 15:20
To Make the First Decision
2015-02-07 14:48
Return for Revision
2015-02-11 19:16
Revised
2015-02-27 23:46
Second Decision
2015-05-08 17:41
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2015-05-18 17:17
Articles in Press
2015-05-18 17:17
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2015-07-09 17:15
Publish the Manuscript Online
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/
Copyright © The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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
Manuscript Source Invited Manuscript
All Author List Eva YG De Vilder and Olivier M Vanakker
Funding Agency and Grant Number
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
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
Full Article (PDF) WJCC-3-556.pdf
Full Article (Word) WJCC-3-556.doc
Manuscript File 15578-Review.docx
Answering Reviewers 15578-Answering reviewers.pdf
Audio Core Tip 15578-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 15578-Conflict-of-interest statement.pdf
Copyright License Agreement 15578-Copyright assignment.pdf
Non-Native Speakers of English Editing Certificate 15578-Language certificate.pdf
Peer-review Report 15578-Peer-review(s).pdf
Scientific Misconduct Check 15578-Scientific misconduct check.pdf
Scientific Editor Work List 15578-Scientific editor work list.pdf