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Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

29 Sept 2020

Abstract excerpt

BACKGROUND: Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden. Quebec, Canada has a large Morquio A population, which is considered unique due to the presence of founder pathogenic variants. The objectives of this study were to document the genetic and clinical heterogeneity of patients with Morquio A in Quebec, to better...

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PMID: 32993725
DOI: 10.1186/s13023-020-01545-y

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