A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder
(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:
https://lup.lub.lu.se/record/a9d17a2d-f7a8-4e8a-bbf3-8e0c466b2c79
- author
- organization
- publishing date
- 2021
- 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
- 2024-08-24 21:11:01
@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}}, }