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

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.

Detalles Bibliográficos
Autores principales: Foy, Malika, De Mazancourt, Philippe, Métay, Corinne, Carlier, Robert, Allamand, Valérie, Gartioux, Corine, Gillas, Fabrice, Miri, Nawel, Jobic, Valérie, Mekki, Ahmed, Richard, Pascale, Michot, Caroline, Benistan, Karelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405372/
https://www.ncbi.nlm.nih.gov/pubmed/34484741
http://dx.doi.org/10.1002/ccr3.4128

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