A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder-Reference-Cited by-同舟云学术

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

Published:2021-06-26 Issue:9 Volume:9 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Foy Malika¹^ORCID,De Mazancourt Philippe²³,Métay Corinne⁴⁵,Carlier Robert²⁶,Allamand Valérie⁴⁷,Gartioux Corine⁴,Gillas Fabrice¹,Miri Nawel³,Jobic Valérie⁵,Mekki Ahmed⁶,Richard Pascale⁵,Michot Caroline⁸⁹,Benistan Karelle¹²^ORCID

Affiliation:

1. Centre de Référence des Syndromes d'Ehlers‐Danlos Non Vasculaires Hôpital Raymond Poincaré Garches France

2. INSERM U1179Université Versailles Saint‐Quentin‐en‐Yvelines Montigny‐le‐Bretonneux France

3. Service de Biochimie et Biologie Moléculaire Hôpital Ambroise ParéAPHP Boulogne‐Billancourt France

4. Sorbonne Université ‐ Inserm UMRS974Centre de Recherche en MyologieGH Pitié‐Salpêtrière Paris France

5. AP‐HPCentre de Génétique Moléculaire et ChromosomiqueUF Cardiogénétique et Myogénétique Moléculaire et CellulaireGH Pitié‐Salpêtrière Paris France

6. APHPGHU Paris‐SaclayDMU Smart ImagingService de radiologie Hôpital Raymond Poincaré Garches France

7. Unit of Muscle Biology Department of Experimental Medical Science Lund University Lund Sweden

8. INSERM UMR_S1163Institut des Maladies Génétiques ImagineHôpital Necker Enfants Malades Paris France

9. Centre de Référence des Syndromes d'Ehlers‐Danlos non VasculairesHôpital Necker Enfants Malades Paris France

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.4128

Reference27 articles.

1. The 2017 international classification of the Ehlers-Danlos syndromes

2. Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome

3. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

4. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history

5. Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome

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