The ehlers–danlos syndromes

F Malfait, M Castori, CA Francomano… - Nature Reviews …, 2020 - nature.com
Abstract The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary
disorders of connective tissue, with common features including joint hypermobility, soft and …

Pathogenic mechanisms in genetically defined Ehlers–Danlos syndromes

D Syx, F Malfait - Trends in Molecular Medicine, 2024 - cell.com
Abstract The Ehlers–Danlos syndromes (EDS) are a group of rare heritable connective
tissue disorders, common hallmarks of which are skin hyperextensibility, joint hypermobility …

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

M Ritelli, M Venturini, V Cinquina, N Chiarelli… - Orphanet Journal of …, 2020 - Springer
Abstract Background The Ehlers-Danlos syndromes (EDS) are rare connective tissue
disorders consisting of 13 subtypes with overlap** features including joint hypermobility …

[HTML][HTML] Fetal fractures in an infant with maternal ehlers-danlos syndrome, CCDC134 pathogenic mutation and a negative genetic test for osteogenesis imperfecta

MF Holick, A Shirvani, N Charoenngam - Children, 2021 - mdpi.com
Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis.
In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures …

Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes

Q Fan, H Li, X Wang, YC Tham, KYC Teo… - Nature …, 2023 - nature.com
Neovascular age-related macular degeneration (nAMD), along with its clinical subtype
known as polypoidal choroidal vasculopathy (PCV), are among the leading causes of vision …

Osteogenesis imperfecta in children

F Arshad, N Bishop - Bone, 2021 - Elsevier
Osteogenesis imperfecta (OI) is a disease characterised by altered bone tissue material
properties together with abnormal micro and macro-architecture and thus bone fragility …

Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta

Y Mei, Y Jiang, L Shen, Z Meng, Z Zhang… - Orphanet Journal of Rare …, 2024 - Springer
Background Very little is known about the characteristics of echocardiographic abnormalities
and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim of our …

[HTML][HTML] Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic …

I Kapferer-Seebacher, E Oakley-Hannibal… - Genetics in …, 2021 - Elsevier
Purpose We report prospective clinical investigations of children affected with periodontal
Ehlers–Danlos syndrome (pEDS). The main clinical features of pEDS in adults are early …

COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder

E Venable, DRT Knight, EK Thoreson… - American Journal of …, 2023 - Wiley Online Library
Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI)
and, rarely, Ehlers‐Danlos syndrome (EDS) subtypes and OI‐EDS overlap syndromes …

Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome

A Amberger, J Pertoll, P Traunfellner… - Frontiers in …, 2023 - frontiersin.org
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal dominant disorder
characterized by early-onset periodontitis leading to premature loss of teeth, lack of attached …