Two novel compound heterozygous mutations in LRP5 cause osteoporosis pseudoglioma syndrome
1Rheumatic Diseases Unit, MRC Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK; 2MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK; 3Department of Rheumatology, Derby Hospitals NHS Foundations Trust, Derby, UK; 4Musculoskeletal Research Unit, School of Clinical Sciences, University of Bristol, Bristol, UK.
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