Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

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

Foy, Malika ; De Mazancourt, Philippe ; Métay, Corinne ; Carlier, Robert ; Allamand, Valérie LU ; Gartioux, Corine ; Gillas, Fabrice ; Miri, Nawel ; Jobic, Valérie and Mekki, Ahmed , et al. (2021) In Clinical Case Reports 9(9).
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.

Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; ; ; and (Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
COL1A1, connective tissue, Ehlers-Danlos Syndrome, hypermobile EDS, joint laxity
in
Clinical Case Reports
volume
9
issue
9
publisher
Wiley
external identifiers
  • pmid:34484741
  • scopus:85108788738
ISSN
2050-0904
DOI
10.1002/ccr3.4128
language
English
LU publication?
yes
id
a9d17a2d-f7a8-4e8a-bbf3-8e0c466b2c79
date added to LUP
2021-08-13 15:33:32
date last changed
2024-06-15 14:19:58
@article{a9d17a2d-f7a8-4e8a-bbf3-8e0c466b2c79,
  abstract     = {{<p>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.</p>}},
  author       = {{Foy, Malika and De Mazancourt, Philippe and Métay, Corinne and Carlier, Robert and Allamand, Valérie and Gartioux, Corine and Gillas, Fabrice and Miri, Nawel and Jobic, Valérie and Mekki, Ahmed and Richard, Pascale and Michot, Caroline and Benistan, Karelle}},
  issn         = {{2050-0904}},
  keywords     = {{COL1A1; connective tissue; Ehlers-Danlos Syndrome; hypermobile EDS; joint laxity}},
  language     = {{eng}},
  number       = {{9}},
  publisher    = {{Wiley}},
  series       = {{Clinical Case Reports}},
  title        = {{A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder}},
  url          = {{http://dx.doi.org/10.1002/ccr3.4128}},
  doi          = {{10.1002/ccr3.4128}},
  volume       = {{9}},
  year         = {{2021}},
}