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The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome,an autosomal recessive condition associated with mutations in SP110 |
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| Authors: | Simon T Cliffe Melanie Wong Peter J Taylor Ezia Ruga Bridget Wilcken Robert Lindeman Michael F Buckley Tony Roscioli |
| Institution: | 1. Centre for Vascular Research, University of New South Wales, Sydney, Australia;2. Department of Allergy, Immunology and Infectious Diseases, The Children's Hospital at Westmead, Sydney, Australia;3. Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Sydney, Australia;4. Department of Pediatrics, University of Padova, Padova, Italy;5. Western Sydney Genetics Program, Children's hospital, Westmead, Australia;6. Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Sydney, Australia
School of Medical Sciences, University of New South Wales, Sydney, Australia;7. Centre for Vascular Research, University of New South Wales, Sydney, Australia Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Sydney, Australia;8. Centre for Vascular Research, University of New South Wales, Sydney, Australia Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Sydney, Australia Sydney South West Integrated Genetics Service, Royal Prince Alfred hospital, University of Sydney, Australia |
| Abstract: | |
| Keywords: | Chorionic villus sample (CVS) veno-occlusive disease with immunodeficiency (VODI) |