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A familial 7q36.3 duplication associated with agenesis of the corpus callosum
Authors:Keith Wong  Randal Moldrich  Matthew Hunter  Matthew Edwards  David Finlay  Sheridan O'Donnell  Tom MacDougall  Nicole Bain  Benjamin Kamien
Affiliation:1. The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia;2. The University of Queensland, The UQ Centre for Clinical Research, Brisbane, Queensland, Australia;3. Hunter Genetics, Newcastle, New South Wales, Australia;4. Paediatrics, School of Medicine, University of Western Sydney, Sydney, New South Wales, Australia;5. Faculty of Science, Technology, and Engineering, LaTrobe University, Bundoora, Victoria, Australia;6. Department of Radiology, John Hunter Hospital, Newcastle, New South Wales, Australia;7. Hunter Area Pathology Service (HAPS), John Hunter Hospital, Newcastle, New South Wales, Australia
Abstract:
Keywords:sonic hedgehog  SHH  agenesis of the corpus callosum  Chiari malformation  macrocephaly  chromosome 7q36.3  RBM33
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