De novo Missense Mutation in SP7 in a Patient with Cranial Hyperostosis, Long Bone Fragility, and Increased Osteoblast Number
1University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria. 2Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA. 3Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria. 4Department of Pediatrics, Hospital of Braunau, Braunau, Austria. 5Orthopedic Department, Medical University of Innsbruck, Innsbruck, Austria. 6Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria. 7Division of Clinical Biotechnology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. 8Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, USA
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