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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2021

Kapferer-Seebacher Ines, Oakley-Hannibal Elizabeth, Lepperdinger Ulrike, Johnson Diana, Ghali Neeti, Brady Angela F, Sobey Glenda, Zschocke Johannes, van Dijk Fleur S

Abstract excerpt

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 severe periodontitis, generalized lack of attached gingiva, and pretibial hemosiderin plaques due to dominant pathogenic variants in the C1R or C1S genes. METHODS: Nineteen children with a parent diagnosed with molecularly confirmed pEDS...

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Identifiers

PMID: 33005042
DOI: 10.1038/s41436-020-00985-y

Genes

C1R
C1S

Variants

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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.

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