Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

Abstract Background Morquio‐B disease (MBD) is a distinct GLB1‐related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting a mild phenocopy of GALNS‐related Morquio‐A disease. Methods We analyzed 63 (n = 62 published) cases with MBD to describe their clinical, bio...

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Bibliographic Details
Main Authors: Iman S. Abumansour, Nataliya Yuskiv, Eduard Paschke, Sylvia Stockler‐Ipsiroglu
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:JIMD Reports
Subjects:
dwarfism
literature review
mucopolysaccharidosis
natural history
spondyloepiphyseal dysplasia
Online Access:https://doi.org/10.1002/jmd2.12065

Internet

https://doi.org/10.1002/jmd2.12065

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