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8/26/2014 10:52:00 AM | Browse: 1104 | Download: 872
Publication Name World Journal of Medical Genetics
Manuscript ID 6923
Country Italy
Received
2013-10-29 22:23
Peer-Review Started
2013-10-30 20:14
To Make the First Decision
2013-12-25 17:58
Return for Revision
2013-12-30 16:22
Revised
2014-02-10 16:10
Second Decision
2014-02-18 12:02
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2014-02-18 12:31
Articles in Press
Publication Fee Transferred
Edit the Manuscript by Language Editor
2014-03-12 22:38
Typeset the Manuscript
2014-05-27 18:57
Publish the Manuscript Online
2014-05-28 15:12
ISSN 2220-3184 (online)
Open Access
Copyright
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 Pediatrics
Manuscript Type Minireviews
Article Title Osteopathia striata with cranial sclerosis, Wilms’ tumor and the WTX gene
Manuscript Source Invited Manuscript
All Author List Elisa Cattaneo, Sara Ciceri, Natascia Liberati, Paolo Radice, Luigi Tarani, Angelo Selicorni and Daniela Perotti
Funding Agency and Grant Number
Funding Agency Grant Number
Italian Association for Cancer Research (AIRC)
Fondazione Pierfranco e Luisa Mariani
Associazione Bianca Garavaglia
Corresponding Author Daniela Perotti, PhD, Molecular Bases of Genetic Risk and Genetic Testing Unit, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian, 1, 20133 Milano, Italy. daniela.perotti@istitutotumori.mi.it
Key Words Osteopathia striata with cranial sclerosis; Wilms’ tumor; WTX; Mutation; Genetics
Core Tip Osteopathia striata with cranial sclerosis (OSCS), a condition often benign in females and severe and lethal in males, has a clinically heterogeneous presentation. Germline anomalies affecting the WTX gene, mapped to chromosome X, are causative of OSCS. Despite WTX mutations in Wilms’ tumor (WT) that closely mirror those identified in OSCS patients, individuals with OSCS do not develop WT. This is in contrast with other syndromic conditions, in which germline mutations or epimutations, also found as somatic events in sporadic WTs, predispose to WT development.
Publish Date 2014-05-28 15:12
Citation Cattaneo E, Ciceri S, Liberati N, Radice P, Tarani L, Selicorni A, Perotti D. Osteopathia striata with cranial sclerosis, Wilms’ tumor and the WTX gene. World J Med Genet 2014; 4(2): 34-38
URL http://www.wjgnet.com/2220-3184/full/v4/i2/34.htm
DOI http://dx.doi.org/10.5496/wjmg.v4.i2.34
Full Article (PDF) WJMG-4-34.pdf
Full Article (Word) WJMG-4-34.doc
Manuscript File 6923-Review.docx
Answering Reviewers 6923-Answering reviewers.pdf
Copyright License Agreement 6923-Copyright assignment.pdf
Peer-review Report 6923-Peer review(s).pdf
Scientific Editor Work List 6923-Scientific editor work list.doc