Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.

Biomolecules - 24 Jan 2021

Stock Friedrich, Hanisch Marcel, Lechner Sarah, Biskup Saskia, Bohring Axel, Zschocke Johannes, Kapferer-Seebacher Ines

Abstract excerpt

We report an extremely rare case of combined classical and periodontal Ehlers-Danlos syndrome (EDS) with early severe periodontitis and a generalized lack of attached gingiva. A German family with classical EDS was investigated by physical and dental evaluation and exome and Sanger sequencing. Due to the specific periodontal phenotype in the affected child, an additional diagnosis of periodontal EDS was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Collagen Type V

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ehlers-Danlos Syndrome

Share to Family Health

Share to Heterozygote

Share to Inflammation

Share to Periodontal Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 33498938
DOI: 10.3390/biom11020149
PMCID: PMC7912441

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.PMID 33498938Read ↗

A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene.Semantic proximity Read ↗

Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.Semantic proximity Read ↗

A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R.Semantic proximity Read ↗

Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.Semantic proximity Read ↗

Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.Semantic proximity Read ↗

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of ComplementSemantic proximity Read ↗

Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.Semantic proximity Read ↗

A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis.Semantic proximity Read ↗

Integrative genomic analysis of 21 orofacial diseases identifies shared genetic architecture with systemic diseases.Semantic proximity Read ↗

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.Semantic proximity Read ↗

Multifocal periapical cement dysplasia in Ehlers-Danlos Typ VIII combined with leukoencephalopathy in de novo-mutation of c.890G>A, G297D [pEDS]Semantic proximity Read ↗

[Genetic factors of aggressive periodontitis risk(matrix proteins, matrix proteases and their regulators].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.