1.
Clin Case Rep
; 10(11): e6490, 2022 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-36348983
RESUMEN
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.