The Ehlers–Danlos syndromes, rare types

AF Brady, S Demirdas… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …

The 2017 international classification of the Ehlers–Danlos syndromes

F Malfait, C Francomano, P Byers… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …

Periodontal manifestations of Ehlers–Danlos syndromes: a systematic review

I Kapferer‐Seebacher, P Lundberg… - Journal of Clinical …, 2017 - Wiley Online Library
Abstract Aim Ehlers–Danlos syndromes (EDS) are a group of inherited connective tissue
disorders, characterized by joint hypermobility, skin hyperextensibility, and tissue fragility …

[HTML][HTML] Dental manifestations of Ehlers-Danlos syndromes: a systematic review

I Kapferer-Seebacher, D Schnabl… - Acta dermato …, 2020 - ncbi.nlm.nih.gov
Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders
characterized by joint hypermobility, skin hyperextensibility, and variable tissue fragility …

[PDF][PDF] Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement

I Kapferer-Seebacher, M Pepin, R Werner… - The American Journal of …, 2016 - cell.com
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder
characterized by early-onset periodontitis leading to premature loss of teeth, joint …

SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome

A Schossig, A Bloch-Zupan, A Lussi, NI Wolf… - Journal of medical …, 2017 - jmg.bmj.com
Background Kohlschütter–Tönz syndrome (KTZS) is a rare autosomal-recessive disease
characterised by epileptic encephalopathy, intellectual disability and amelogenesis …

[HTML][HTML] C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

R Gröbner, I Kapferer-Seebacher, A Amberger… - Frontiers in …, 2019 - frontiersin.org
Heterozygous missense or in-frame insertion/deletion mutations in complement 1 subunits
C1r and C1s cause periodontal Ehlers-Danlos Syndrome (pEDS), a specific EDS subtype …

[HTML][HTML] Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

I Kapferer-Seebacher, Q Waisfisz, S Boesch, M Bronk… - neurogenetics, 2019 - Springer
Here, we report brain white matter alterations in individuals clinically and genetically
diagnosed with periodontal Ehlers–Danlos syndrome, a rare disease characterized by …

[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 …

[HTML][HTML] Cleansing efficacy of an oral irrigator with microburst technology in orthodontic patients—a randomized-controlled crossover study

V Wiesmüller, M Kasslatter, B Zengin, D Zotz… - Clinical Oral …, 2023 - Springer
Objectives Orthodontic patients struggle with interdental cleaning calling for simpler
mechanical devices to reduce the high plaque levels. The present study aimed to compare …