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In view of intrafamilial variability, a family history with a documented pathogenic variant is sufficient for genetic testing in individuals not fulfilling the criteria

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spondylodysplastic, arthrochalasia, kyphoscoliotic, and classical-like type 2 EDS) [9, 43, 44, 48, 49, 52, 59, 65, 68] or skeletal dysplasia [39], and suggests a potential involvement of skeletal fragility in determining a poorer quality of life (QoL) in adult patients