Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]

Description

Periodontal Ehlers-Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S. To date, 148 cases have been described in the literature.We describe a case of a suspected de novo-mutation of pEDS with generalized Periapical cemental dysplasia (PCD) and cerebral leukoencephalopathy.

Links & Downloads

1. urn:nbn:de:bsz:14-qucosa2-917028
2. https://tud.qucosa.de/id/qucosa%3A91702
3. https://tud.qucosa.de/api/qucosa%3A91702/attachment/ATT-0/

Tags

info:eu-repo/classification/ddc/610

ddc:610

Additional Fields

Identifer	oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:91702
Date	04 June 2024
Creators	Nilius, Manfred, Nilius, Minou Helene, Müller, Charlotte, Lauer, Guenter, Koch, Berit, Kohlhaas, Marcus
Publisher	Wiley
Source Sets	Hochschulschriftenserver (HSSS) der SLUB Dresden
Language	English
Detected Language	English
Type	info:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text
Rights	info:eu-repo/semantics/openAccess
Relation	2050-0904, e6490, 10.1002/ccr3.6490