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    Background While an association between full mutation CGG-repeat expansions of the Fragile X Mental Retardation 1 ( FMR1 ) gene and connective tissue problems are clearly described, problems in fragile X premutation carriers (fXPCs) CGG-repeat range (55–200 repeats) of the FMR1 gene may be overlooked. Objective To report five FMR1 fXPCs cases with the hypermobile Ehlers-Danlos syndrome (hEDS)…

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    • Connective tissue problems are known to complicate #FragileXSyndrome, with #FMR1 known to regulate ECM proteins, MMP9, elastin & actin. This may also apply to premutation carriers with clinical implications https://t.co/dbYtBG7lEd @UCDMINDINST @EmLyWill #hEDS #hypermobility https://t.co/oiqWx65qMf