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

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

Sammanfattning

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.

Originalspråkengelska
TidskriftClinical Case Reports
Volym9
Utgåva9
DOI
StatusPublished - 2021

Ämnesklassifikation (UKÄ)

  • Dermatologi och venereologi

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