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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalClinical Case Reports
Volume9
Issue number9
DOIs
Publication statusPublished - 2021

Subject classification (UKÄ)

  • Dermatology and Venereal Diseases

Keywords

  • COL1A1
  • connective tissue
  • Ehlers-Danlos Syndrome
  • hypermobile EDS
  • joint laxity

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