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Case Reports in Genetics
Volume 2014, Article ID 691515, 5 pages
http://dx.doi.org/10.1155/2014/691515
Case Report

Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

1Department of Pediatrics, Hospital Pediátrico Integrado, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
2Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
3Unit of Pediatric Neurology, Hospital Pediátrico Integrado, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
4Centogene AG, Schillingallee 68, 18057 Rostock, Germany
5Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

Received 31 May 2014; Revised 20 August 2014; Accepted 1 September 2014; Published 14 September 2014

Academic Editor: Patrick Morrison

Copyright © 2014 Filipa Flor-de-Lima et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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