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Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

  • Maria Rosaria D’Apice1Email author,
  • Antonio Novelli2,
  • Alessandra di Masi3,
  • Michela Biancolella4,
  • Antonio Antoccia3,
  • Francesca Gullotta3, 4,
  • Norma Licata4, 5,
  • Daniela Minella4,
  • Barbara Testa4,
  • Anna Maria Nardone1,
  • Giampiero Palmieri6,
  • Emma Calabrese7,
  • Livia Biancone7,
  • Caterina Tanzarella3,
  • Marina Frontali8,
  • Federica Sangiuolo1, 4,
  • Giuseppe Novelli1, 4, 9 and
  • Francesco Pallone7
BMC Medical Genetics201516:20

Received: 10 September 2014

Accepted: 12 March 2015

Published: 2 April 2015

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Open Peer Review reports

Pre-publication versions of this article are available by contacting

Original Submission
10 Sep 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
12 Mar 2015 Editorially accepted
2 Apr 2015 Article published 10.1186/s12881-015-0164-3

How does Open Peer Review work?

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Authors’ Affiliations

Fondazione Policlinico Tor Vergata, Rome, Italy
Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Department of Biology, “Roma Tre” University, Rome, Italy
Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy
Department of Neuroscience, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy
Pathological Anatomy Unit, University Tor Vergata, Rome, Italy
Department of Internal Medicine, Gastrointestinal Unit, Tor Vergata University of Rome, Rome, Italy
Institute of Translational Pharmacology, Rome, Italy
San Pietro Fatebenefratelli Hospital, Rome, Italy