Bone Abstracts

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European Calcified Tissue Society Congress 2014

Prague, Czech Republic
17 May 2014 - 20 May 2014

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

Clinical Case Oral Communications

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Table of contents

ba0003cc1 | (1)

Molecular diagnosis of osteopetrotic patients with atypical presentations using traditional approaches and exome sequencing

ba0003cc2 | (1)

Hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; Long-term clinical outcome and phenotypic variability.

ba0003cc3 | (1)

Absence of ER cation channel TMEM38B/TRIC-B causes recessive osteogenesis imperfecta by dysregulation of collagen post-translational modification

ba0003cc4 | (1)

Two novel compound heterozygous mutations in LRP5 cause osteoporosis pseudoglioma syndrome

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