A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder - Sorbonne Université
Article Dans Une Revue Clinical Case Reports Année : 2021

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

Résumé

COL1-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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hal-03274483 , version 1 (30-06-2021)

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Malika Foy, Philippe de Mazancourt, Corinne Métay, Robert Carlier, Valérie Allamand, et al.. A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder. Clinical Case Reports, 2021, ⟨10.1002/ccr3.4128⟩. ⟨hal-03274483⟩
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