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Open Accesshttps://doi.org/10.1136/jmg.2008.063818
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Apr 2, 2009 |
 Citations: 90 |
Affiliation: SUNY Downstate Medical Center, State University of New York, National Human Genome Research Institute, National Institutes of Health, Southwestern Medical Center, The University of Texas Southwestern Medical Center, Texas Scottish Rite Hospital for Children, Alder Hey Children's Hospital, University of Liverpool, Children's Hospital of Philadelphia, University of Bremen, University College London, Great Ormond Street Hospital, University of British Columbia, Maastricht University Medical Centre, Tufts University, Radboud University Nijmegen, Academic Medical Center, Stanford University, University of Münster, Innsbruck Medical University, University of Utah, Haukeland University Hospital, University Medical Center Utrecht, Leiden University Medical Center, University of Regensburg, Maine Medical Center, St Mary's Hospital, University of Manchester, Mount Sinai Hospital, Greenwood Genetic Center, Texas Children's Hospital, Baylor College of Medicine, Kennedy Krieger Institute, Johns Hopkins University, Michigan State University, University of Chicago, University of Bergen, San Antonio Military Medical CenterBackground:Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain. There are several important HPE mutational target genes, including the transcription factor SIX3, which encodes an early regulator...
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