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

Manfred NiliusMinou Helene NiliusCharlotte MuellerGuenter LauerKoch BeritKohlhaas Marcus
Published in: Clinical case reports (2022)
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.
Keyphrases
  • case report
  • systematic review
  • genome wide
  • early onset
  • gene expression
  • dna methylation
  • cone beam
  • blood brain barrier
  • brain injury