A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder

Malika Foy, Philippe De Mazancourt, Corinne Métay, Robert Carlier, Valérie Allamand, Corine Gartioux, Fabrice Gillas, Nawel Miri, Valérie Jobic, Ahmed Mekki, Pascale Richard, Caroline Michot, Karelle Benistan

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Medicine & Life Sciences