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Case Reports in Genetics
Volume 2013, Article ID 748057, 4 pages
http://dx.doi.org/10.1155/2013/748057
Case Report

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

1Paediatrics Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, EPE, Unidade II, 4400-129 Vila Nova de Gaia, Portugal
2Orthopaedics Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, EPE, Unidade II, 4400-129 Vila Nova de Gaia, Portugal

Received 25 February 2013; Accepted 26 March 2013

Academic Editors: D. J. Bunyan, C.-W. Cheng, P. D. Cotter, S. F. Grant, and G. Velagaleti

Copyright © 2013 Catarina Dias 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.

How to Cite this Article

Catarina Dias, Lara Isidoro, Mafalda Santos, Helena Santos, and Jorge Sales Marques, “Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene,” Case Reports in Genetics, vol. 2013, Article ID 748057, 4 pages, 2013. https://doi.org/10.1155/2013/748057.