Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis
Objectives: DISH/CC is a poorly understood phenotype characterised by peripheral and axial enthesopathic calcifications, frequently fulfilling the radiological criteria for Diffuse Idiopathic Skeletal Hyperostosis (DISH, MIM 106400), and in some cases associated with Calcium Pyrophosphate Dihydrate...
Main Authors: | Bruna Parreira, Ana Rita Couto, Fabiana Rocha, Madalena Sousa, Vanessa Faustino, Deborah Mary Power, Jácome Bruges-Armas |
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Format: | Article |
Language: | English |
Published: |
Sociedade Portuguesa de Reumatologia
2020-04-01
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Series: | Acta Reumatológica Portuguesa |
Subjects: | |
Online Access: | http://www.actareumatologica.pt/files/article/1298_whole_exome_sequencing_of_patients_with_diffuse_idiopathic_skeletal_hyperostosis_and_calcium_pyrophosphate_crystal_chondrocalcinosis_file.pdf |
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