A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder
| Autor: | Valérie Allamand, Fabrice Gillas, Robert Carlier, Nawel Miri, Valérie Jobic, Corinne Metay, Karelle Benistan, C. Gartioux, Ahmed Mekki, Philippe de Mazancourt, Caroline Michot, Malika Foy, Pascale Richard |
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| Přispěvatelé: | Hôpital Raymond Poincaré [AP-HP], Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Ambroise Paré [AP-HP], Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Lund University [Lund], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), The French Reference Center for nonvascular EDS is supported by the French Ministry of Health., V. Allamand's group is supported by intramural funds from the Association Institut de Myologie, and Inserm., Centre de recherche en Myologie – U974 SU-INSERM |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Medicine (General)
medicine.medical_specialty COL1A1 Genetic counseling [SDV]Life Sciences [q-bio] Case Report Case Reports Joint laxity 03 medical and health sciences R5-920 medicine 030304 developmental biology connective tissue 0303 health sciences business.industry 030305 genetics & heredity General Medicine medicine.disease Dermatology Ehlers‐Danlos Syndrome joint laxity Ehlers–Danlos syndrome Medicine Ehlers-Danlos Syndrome business hypermobile EDS |
| Zdroj: | Clinical Case Reports Clinical Case Reports, Wiley, 2021, ⟨10.1002/ccr3.4128⟩ Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021) |
| ISSN: | 2050-0904 |
| DOI: | 10.1002/ccr3.4128⟩ |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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