A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder. Issue 9 (26th June 2021)

• Record Type: Journal Article
• Authors: Foy, Malika; De Mazancourt, Philippe; Métay, Corinne; Carlier, Robert; Allamand, Valérie; Gartioux, Corine; Gillas, Fabrice; Miri, Nawel; Jobic, Valérie; Mekki, Ahmed; Richard, Pascale; Michot, Caroline; Benistan, Karelle
• Is Part Of: Clinical case reports. Volume 9:Issue 9(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-06-26
• Subjects: COL1A1 -- connective tissue -- Ehlers‐Danlos Syndrome -- hypermobile EDS -- joint laxity; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.4128
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: 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. Abstract : 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.