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

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...

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Detalles Bibliográficos
Autores principales: Nilius, Manfred, Nilius, Minou Helene, Müller, Charlotte, Lauer, Guenter, Berit, Koch, Marcus, Kohlhaas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634265/
https://www.ncbi.nlm.nih.gov/pubmed/36348983
http://dx.doi.org/10.1002/ccr3.6490

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