Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis

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...

Full description

Bibliographic Details
Main Authors: Bruna Parreira, Ana Rita Couto, Fabiana Rocha, Madalena Sousa, Vanessa Faustino, Deborah Mary Power, Jácome Bruges-Armas
Format: Article
Language:English
Published: Sociedade Portuguesa de Reumatologia 2020-04-01
Series:Acta Reumatológica Portuguesa
Subjects:
rheumatic and musculoskeletal diseases
genetic association
rheumatology
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

Internet

http://www.actareumatologica.pt/files/article/1298_whole_exome_sequencing_of_patients_with_diffuse_idiopathic_skeletal_hyperostosis_and_calcium_pyrophosphate_crystal_chondrocalcinosis_file.pdf

Similar Items