Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2015, Article ID 192071, 7 pages
http://dx.doi.org/10.1155/2015/192071
Case Report

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

1Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
2Department of Neuroservices, Starship Children’s Health, Private Bag 92024, Auckland 1142, New Zealand
3Genetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand
4Middlemore Hospital, Private Bag 93311, Otahuhu, Auckland 1640, New Zealand

Received 16 April 2015; Revised 7 July 2015; Accepted 7 July 2015

Academic Editor: Patrick Morrison

Copyright © 2015 Adrian Mc Cormack 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.

Citations to this Article [5 citations]

The following is the list of published articles that have cited the current article.

  • Yao Yao, Edith Jones, and Ken Inoki, “Lysosomal Regulation of mTORC1 by Amino Acids in Mammalian Cells,” Biomolecules, vol. 7, no. 3, pp. 51, 2017. View at Publisher · View at Google Scholar
  • Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, and Francesco Papadia, “Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.,” American Journal of Medical Genetics Part A, 2017. View at Publisher · View at Google Scholar
  • Herman E. Wyandt, Golder N. Wilson, Vijay S. Tonk, Herman E. Wyandt, Golder N. Wilson, and Vijay S. Tonk, “A CNV Catalogue,” Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis, pp. 235–417, 2017. View at Publisher · View at Google Scholar
  • Rachel L Wolfson, Sonia M Scaria, Monther Abu-Remaileh, Wayne N Frankel, David M Sabatini, Lynne Chantranupong, Gregory A Wyant, Xin Gu, Jose M Orozco, Kuang Shen, Kendall J Condon, Sabrina Petri, and Jibril Kedir, “KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.,” Nature, vol. 543, no. 7645, pp. 438–442, 2017. View at Publisher · View at Google Scholar
  • Jang Keun Kim, and Jeong Ho Lee, “Mechanistic Target of Rapamycin Pathway in Epileptic Disorders,” Journal of Korean Neurosurgical Society, vol. 62, no. 3, pp. 272–287, 2019. View at Publisher · View at Google Scholar