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

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

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.

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Clinical Case Reports
Subjects:
COL1A1
connective tissue
Ehlers‐Danlos Syndrome
hypermobile EDS
joint laxity
Online Access:https://doi.org/10.1002/ccr3.4128

Internet

https://doi.org/10.1002/ccr3.4128

Similar Items