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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.
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| 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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| author | 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 |
| author_facet | 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 |
| author_sort | Foy, Malika |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-8405372 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-84053722021-09-03 A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder 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 Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2021-06-26 /pmc/articles/PMC8405372/ /pubmed/34484741 http://dx.doi.org/10.1002/ccr3.4128 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Case Reports 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 A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| 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 |
| title_full | A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| title_fullStr | A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| title_full_unstemmed | A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| title_short | A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder |
| title_sort | novel col1a1 variant in a family with clinical features of hypermobile ehlers‐danlos syndrome that proved to be a col1‐related overlap disorder |
| topic | Case Reports |
| url | 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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