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Case Reports in Genetics
Volume 2017 (2017), Article ID 1048717, 3 pages
https://doi.org/10.1155/2017/1048717
Case Report

Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype

1Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá D.C., Colombia
2Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Hospital Universitario San Ignacio, Bogotá D.C., Colombia

Correspondence should be addressed to Fernando Suárez-Obando; oc.ude.anairevaj@zeraus.odnanref

Received 15 November 2016; Accepted 17 January 2017; Published 5 February 2017

Academic Editor: Philip D. Cotter

Copyright © 2017 Ana Isabel Sánchez 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

Ana Isabel Sánchez, Alejandra Rincón, Mary García, and Fernando Suárez-Obando, “Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype,” Case Reports in Genetics, vol. 2017, Article ID 1048717, 3 pages, 2017. doi:10.1155/2017/1048717