Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism
1Department of Internal Medicine and Paediatrics, Ghent, Belgium.;2Primary Immunodeficiency Research Lab, Ghent University and Ghent University Hospital, Ghent, Belgium.;3VIB-UGent Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium.;4Department of Laboratory Medicine, Ghent University Hospital, Ghent, Belgium.;5Department of Diagnostic Science, Ghent University, Ghent, Belgium.;6Pediatric Endocrinology Service, Palestine Red Crescent Society Hospital, Hebron, Palestine.;7Department of Internal Medicine and Paediatrics, Ghent University, Ghent, Belgium.;8Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.;9Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.;10Department of Medical Imaging, Ghent University Hospital, Ghent, Belgium.;11Division of Pediatric Endocrinology, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.;12Department of Clinical Genetics, Erasmus MC, Sophia Childrens Hospital, University Medical Center, Rotterdam, Netherlands.;13Department of Pediatric Infectiology, Erasmus MC, Sophia Childrens Hospital, University Medical Center, Rotterdam, Netherlands.;14Erasmus Medical Centre, Sophia Childrens Hospital, Department of Pediatric Endocrinology, Rotterdam, Netherlands.;15Leiden University Medical Centre, Department of Pediatrics, Leiden, Netherlands.;16Department of Clinical Chemistry, Erasmus MC, University Medical Center, Rotterdam, Netherlands.;17Pediatric Pneumology Service, Ghent University Hospital, Ghent, Belgium.;18Pediatric Endocrinology Service, Ghent University Hospital, Ghent, Belgium
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