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How to Cite | Author Information | Publication History
International Journal of Pediatrics & Neonatal Care Volume 1 (2015), Article ID 1:IJPNC-104, 3 pages
http://dx.doi.org/10.15344/2455-2364/2015/104
Case Report
A Novel Intragenic Deletion in Ophn1 in A Boy with Developmental Delay, Strabismus and Cerebellar Hypoplasia

Luisa Ronzoni1, Lidia Pezzani2, Donatella Milani1*, Pietro Chiurazzi3, Maria Grazia Pomponi3, Roberta Pietrobono3, Maurizio Viri4 and Susanna Esposito1

1Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
2Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Pathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
3Institute of Medical Genetics, Catholic University Faculty of Medicine, Rome, Italy
4Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milan, Italy
Donatella Milani, Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy, Tel.: +39-02-55032412, Fax: +39-02- 50320206; E-mail: donatella.milani@policlinico.mi.it
31 March 2015; 12 May 2015; 14 May 2015
Ronzoni L, Pezzani L, Milani D, Chiurazzi P, Pomponi MG, et al. (2015) A Novel Intragenic Deletion in Ophn1 in A Boy with Developmental Delay, Strabismus and Cerebellar Hypoplasia. Int J Pediatr Neonat Care 1: 104. doi: http://dx.doi.org/10.15344/2455-2364/2015/104
© 2015 Ronzoni et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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