Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Pediatrics
Volume 2016, Article ID 5175709, 5 pages
Case Report

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

Division of Metabolism and Nutrition, Ankara Children’s Hematology-Oncology Research and Training Hospital, Ankara, Turkey

Received 9 July 2016; Accepted 21 September 2016

Academic Editor: Pietro Strisciuglio

Copyright © 2016 Mehmet Gunduz and Ozlem Unal. 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.

Linked References

  1. B. T. Poll-The, P. Aubourg, and R. J. A. Wanders, “Peroxisomal disorders,” in Inborn Metabolic Diseases, J. M. Saudubray, G. van den Berghe, and J. H. Walter, Eds., Springer, Berlin, Germany, 5th edition, 2011. View at Google Scholar
  2. M. Gunduz and O. Unal, “Dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutations,” Journal of Inherited Metabolic Disease, vol. 39, article 35, 2016. View at Google Scholar
  3. H. R. Waterham, S. Ferdinandusse, and R. J. Wanders, “Human disorders of peroxisome metabolism and biogenesis,” Biochimica et Biophysica Acta (BBA)—Molecular Cell Research, vol. 1863, no. 5, pp. 922–933, 2016. View at Publisher · View at Google Scholar
  4. S. J. Steinberg, G. V. Raymond, N. E. Braverman, and A. B. Moser, “Peroxisome biogenesis disorders, zellweger syndrome spectrum,” in GeneReviews, R. A. Pagon, M. P. Adam, H. H. Ardinger et al., Eds., University of Washington, Seattle, Wash, USA, 2003. View at Google Scholar
  5. RefSeq protein analysis dataset,
  6. B. T. Poll-The, J. Gootjes, M. Duran et al., “Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients,” American Journal of Medical Genetics, vol. 126, no. 4, pp. 333–338, 2004. View at Google Scholar · View at Scopus
  7. J. Berger, F. Dorninger, S. Forss-Petter, and M. Kunze, “Peroxisomes in brain development and function,” Biochimica et Biophysica Acta (BBA)—Molecular Cell Research, vol. 1863, no. 5, pp. 934–955, 2016. View at Publisher · View at Google Scholar
  8. S. J. Gould, G. V. Raymond, and D. Valle, “The peroxisome biogenesis disorders,” in The Metabolic and Molecular Bases of Inherited Disease, C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds., pp. 3181–3217, McGraw-Hill Information Services, New York, NY, USA, 2001. View at Google Scholar
  9. N. E. Braverman, G. V. Raymond, W. B. Rizzo et al., “Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines,” Molecular Genetics and Metabolism, vol. 117, no. 3, pp. 313–321, 2016. View at Publisher · View at Google Scholar
  10. B. T. Poll-The and J. Gärtner, “Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders,” Biochimica et Biophysica Acta (BBA)—Molecular Basis of Disease, vol. 1822, no. 9, pp. 1421–1429, 2012. View at Publisher · View at Google Scholar · View at Scopus
  11. F. Ezgu, T. Eminoglu, I. Okur et al., “An infantile case of Zellweger syndrome presented with Kabuki-like phenotype,” Genetic Counseling, vol. 22, no. 2, pp. 217–220, 2011. View at Google Scholar · View at Scopus