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Clin Case Rep ; 10(11): e6490, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36348983

RESUMO

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.

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