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Case Reports in Genetics
Volume 2012 (2012), Article ID 949507, 3 pages
Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient
1Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University GSG, 2nd Floor Jl. Dr. Sutomo 14, Semarang, Indonesia
2Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
Received 20 October 2012; Accepted 6 November 2012
Academic Editors: S. Chappell, R. Perry, and M. Suri
Copyright © 2012 Farmaditya E. P. Mundhofir 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.
- D. R. Mowat, G. D. H. Croaker, D. T. Cass et al., “Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22–q23,” Journal of Medical Genetics, vol. 35, no. 8, pp. 617–623, 1998.
- N. Wakamatsu, Y. Yamada, K. Yamada et al., “Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease,” Nature Genetics, vol. 27, no. 4, pp. 369–370, 2001.
- E. Evans, S. Einfeld, D. Mowat, et al., “The behavioral phenotype of Mowat-Wilson syndrome,” American Journal of Medical Genetics A, vol. 158, no. 2, pp. 358–366, 2012.
- L. Garavelli and P. C. Mainardi, “Mowat-Wilson syndrome,” Orphanet Journal of Rare Diseases, vol. 2, no. 1, article 42, 2007.
- F. E. Mundhofir, T. I. Winarni, B. W. van Bon, et al., “A cytogenetic study in a large population of intellectually disabled Indonesians,” Genetic Testing and Molecular Biomarkers, vol. 16, no. 5, pp. 412–417, 2012.
- F. Dastot-Le Moal, M. Wilson, D. Mowat, N. Collot, F. Niel, and M. Goossens, “ZFHX1B mutations in patients with Mowat-Wilson syndrome,” Human Mutation, vol. 28, no. 4, pp. 313–321, 2007.
- D. R. Mowat and M. J. Wilson, “Mowat-Wilson syndrome,” in Management of Genetic Syndromes, S. B. Cassidy and J. E. Allanson, Eds., pp. 517–529, John Wiley and Sons, New York, NY, USA, 2010.