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A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases

  • Sara O. Vaz1,
  • Renato Pires2, 3,
  • Luís M. Pires4,
  • Isabel M. Carreira4, 5, 6,
  • Rui Anjos7,
  • Paula Maciel1 and
  • Luisa Mota-Vieira2, 3, 8Email author
Contributed equally
BMC Pediatrics201515:95

https://doi.org/10.1186/s12887-015-0417-5

Received: 10 November 2014

Accepted: 13 August 2015

Published: 22 August 2015

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Open Peer Review reports

Pre-publication versions of this article are available by contacting info@biomedcentral.com.

Original Submission
10 Nov 2014 Submitted Original manuscript
Author responded Author comments
Resubmission - Version 2
Submitted Manuscript version 2
Author responded Author comments
Reviewed Reviewer Report
Reviewed Reviewer Report
Resubmission - Version 3
Submitted Manuscript version 3
Author responded Author comments
Resubmission - Version 4
Submitted Manuscript version 4
Author responded Author comments
Reviewed Reviewer Report
Reviewed Reviewer Report
Resubmission - Version 5
Submitted Manuscript version 5
Author responded Author comments
Reviewed Reviewer Report
Resubmission - Version 6
Submitted Manuscript version 6
Publishing
13 Aug 2015 Editorially accepted
22 Aug 2015 Article published 10.1186/s12887-015-0417-5

How does Open Peer Review work?

Open peer review is a system where authors know who the reviewers are, and the reviewers know who the authors are. If the manuscript is accepted, the named reviewer reports are published alongside the article. Pre-publication versions of the article are available by contacting info@biomedcentral.com.

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Authors’ Affiliations

(1)
Department of Pediatrics of Hospital of Divino Espírito Santo of Ponta Delgada, Ponta Delgada, Portugal
(2)
Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, Ponta Delgada, Portugal
(3)
Biosystems & Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisboa, Lisboa, Portugal
(4)
Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
(5)
Centro de Investigação em Meio Ambiente, Genética e Oncobiologia (CIMAGO), Faculty of Medicine, University of Coimbra, Coimbra, Portugal
(6)
Centre of Neurosciences (CNC), University of Coimbra, Coimbra, Portugal
(7)
Department of Pediatric Cardiology, Hospital of Santa Cruz, Carnaxide, Portugal
(8)
Instituto Gulbenkian de Ciência, Oeiras, Portugal

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