Searchable abstracts of presentations at key conferences on calcified tissues
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European Calcified Tissue Society Congress 2014

Prague, Czech Republic
17 May 2014 - 20 May 2014

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European Calcified Tissue Society Annual Congress, 17 - 20 May 2014; Prague, Czech Republic

Clinical Case Oral Communications

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Molecular diagnosis of osteopetrotic patients with atypical presentations using traditional approaches and exome sequencing
1CNR-IRGB, Milan Unit, Milan, Italy; 2Istituto Clinico Humanitas IRCCS, Rozzano, Italy; 3CRS4 Bioinformatics Laboratory, Parco Scientifico e Tecnologico POLARIS, Pula, Italy; 4CNR-IRGB, Cittadella Universitaria di Monserrato, Cagliari, Italy.
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Hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; Long-term clinical outcome and phenotypic variability.
1Institute of Clinical Science, University of Bergen, Bergen, Norway; 2Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; 3Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
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Absence of ER cation channel TMEM38B/TRIC-B causes recessive osteogenesis imperfecta by dysregulation of collagen post-translational modification
1Bone and Extracellular Matrix Branch, NICH, NIH, Bethesda, Maryland, USA; 2Section on Physical Biochemistry, NICHD, NIH, Bethesda, Maryland, USA; 3Molecular Biology Section, NIDCR, NIH, Bethesda, Maryland, USA; 4Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, USA; 5Department of Medical Genetics, Children’s National Medical Center, Washington, District of Columbia, USA.
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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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