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

牙周埃勒斯-当洛斯综合征伴多灶性根尖周牙骨质发育不良,c.890G > a, G297D 突变导致脑白质病变 [pEDS]

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Abstract

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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