Article
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
Clinical genetics - 1 Aug 2021
El Chehadeh Salima, Legrand Anne, Stoetzel Corinne, Geoffroy Véronique, Billon Clarisse, Adham Salma, Jeunemaître Xavier, Jaussaud Roland, Muller Jean, Schaefer Elise, Benistan Karelle, Gaertner Sébastien, Bloch-Zupan Agnès, Courval Aymeric, Manière Marie-Cécile, Petit Catherine, Bursztejn Anne-Claire, Bal Laurence, Reyre Anthony, Chammas Agathe, Busa Tiffany, Dollfus Hélène, Lipsker Dan
Abstract excerpt
Periodontal Ehlers-Danlos syndrome (pEDS) is a rare condition caused by pathogenic variants in the C1R and C1S genes, encoding subunits C1r and C1s of the first component of the classical complement pathway. It is characterized by early-onset periodontitis with premature tooth loss, pretibial hyperpigmentation and skin fragility. Rare arterial complications have been reported, but venous insufficiency is rarely...
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