Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

• Autor(a) principal: Lacbawan, F.
• Data de Publicação: 2009
• Outros Autores: Solomon, B. D., Roessler, E., El-Jaick, K., Domene, S., Velez, J. I., Zhou, N., Hadley, D., Balog, J. Z., Long, R., Fryer, A., Smith, W., Omar, S., McLean, S. D., Clarkson, K., Lichty, A., Clegg, N. J., Delgado, M. R., Levey, E., Stashinko, E., Potocki, L., Van Allen, M. I., Clayton-Smith, J., Donnai, D., Bianchi, D. W., Juliusson, P. B., Njolstad, P. R., Brunner, H. G., Carey, J. C., Hehr, U., Musebeck, J., Wieacker, P. F., Polstra, A., Hennekam, R. C. M., Boogaard, M. J. H. van den, Haeringen, A. van, Paulussen, A., Herbergs, J., Schrander-Stumpel, C. T. R. M., Janecke, A. R.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
• Texto Completo: https://www.arca.fiocruz.br/handle/icict/39067
• topic: Holoprosencephaly; SIX3; Genotype; Fenotype; Clinical spectrum

K. El-Jaick. Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta a informação no documento. 1 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; 2 Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA; 3 Department of Clinical Genetics, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK; 4 Department of Genetics, Maine Medical Center, Portland, ME, USA; 5 Department of Neonatalogy, College of Human Medicine, Michigan State University, MI, USA; 6 Departments of Pediatrics and Genetics, San Antonio Military Medical Center, San Antonio, TX, USA; 7 Department of Clinical Genetics, Greenwood Genetic Center, Columbia, SC, USA; 8 Department of Neurology, Texas Scottish Rite Hospital for Children, University of Texas Southwestern Medical Center, Dallas, TX, USA; 9 Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD, USA; 10 Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, USA; 11 Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; 12 Academic Department of Medical Genetics and Regional Genetic Services, St Mary’s Hospital, University of Manchester, Manchester, UK; 13 Division of Genetics, Department of Pediatrics, Tufts University School of Medicine, Boston, MA, USA; 14 Department of Paediatrics, Haukeland University Hospital, Bergen, Norway; 15 Department of Clinical Medicine, University of Bergen, Bergen, Norway; 16 Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; 17 Division of Medical Genetics, University of Utah Medical Center, Salt Lake City, UT, USA; 18 Department of Human Genetics, University of Regensburg, Regensburg, Germany; 19 Center for Human Genetics, University of Bremen, Bremen, Germany; 20 Institute of Human Genetics, University of Munster, Munster, Germany; 21 Department of Clinical Genetics, Academic Medical Center, Amsterdam, Netherlands; 22 Institute of Child Health, Great Ormond Street Hospital for Children, London, UK; 23 Department of Medical Genetics, University Medical Centre Utrecht, Netherlands; 24 Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands; 25 Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, Netherlands; 26 Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, Austria; 27 Prenatal Diagnostics and Medical Genetics, Mt. Sinai Hospital, Toronto, ON, Canada; 28 Department of Neurology, Stanford University School of Medicine, Palo Alto, CA, USA; 29 Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA; 30 Departments of Human Genetics, Neurology and Pediatrics, The University of Chicago, Chicago, IL, USA.