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Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus
Authors:Duncan B. Sparrow  Eissa Ali Faqeih  Bahauddin Sallout  Abdulrahman Alswaid  Faroug Ababneh  Moeenaldeen Al‐Sayed  Hadeel Rukban  Wafaa M. Eyaid  Ryoichiro Kageyama  Sian Ellard  Peter D. Turnpenny  Sally L. Dunwoodie
Affiliation:1. Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, , Sydney, Australia;2. St. Vincent's Clinical School, Faculty of Medicine, UNSW, , Sydney, Australia;3. Section of Medical Genetics, Department of Pediatrics, Children's Hospital, King Fahad Medical City, , Riyadh, Kingdom of, Saudi Arabia;4. Women's Specialist Hospital, Maternal Fetal Department, King Fahad Medical City, , Riyadh, Kingdom of, Saudi Arabia;5. Section of Medical Genetics, Department of Pediatrics, King Abdulaziz Medical City, , Riyadh, Kingdom of, Saudi Arabia;6. Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, , Riyadh, Kingdom of, Saudi Arabia;7. Department of Pediatrics, King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Science, , Riyadh, Kingdom of, Saudi Arabia;8. Institute for Virus Research, Kyoto University, , Kyoto, Japan;9. Molecular Genetics Laboratory, Royal Devon and Exeter Hospital, , Exeter, UK;10. Clinical Genetics Department, Royal Devon and Exeter Hospital, , Exeter, UK;11. School of Biotechnology and Biomolecular Sciences, Faculty of Science, UNSW, , Sydney, Australia
Abstract:
Keywords:spondylocostal dysostosis  HES7  situs inversus  dextrocardia  neural tube defects
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