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

Clinical case reports（2021）

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摘要

-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.

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关键词

COL1A1,Ehlers‐Danlos Syndrome,connective tissue,hypermobile EDS,joint laxity

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