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Articles Published Processes
8/26/2014 10:52:00 AM | Browse: 1216 | Download: 1082
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Received |
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2013-10-29 22:23 |
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Peer-Review Started |
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2013-10-30 20:14 |
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To Make the First Decision |
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2013-12-25 17:58 |
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Return for Revision |
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2013-12-30 16:22 |
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Revised |
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2014-02-10 16:10 |
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Second Decision |
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2014-02-18 12:02 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2014-02-18 12:31 |
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Articles in Press |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2014-03-12 22:38 |
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Typeset the Manuscript |
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2014-05-27 18:57 |
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Publish the Manuscript Online |
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2014-05-28 15:12 |
Category |
Pediatrics |
Manuscript Type |
Minireviews |
Article Title |
Osteopathia striata with cranial sclerosis, Wilms’ tumor and the WTX gene
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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) |
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Fondazione Pierfranco e Luisa Mariani |
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Associazione Bianca Garavaglia |
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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 |
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