Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study

• Published in: European journal of medical genetics Vol. 62; no. 11; p. 103546
• Main Authors: Aghajanyan, Anna, Fucic, Aleksandra, Tskhovrebova, Leila, Gigani, Olga, Konjevoda, Pasko
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.11.2019
• Subjects: Abnormalities, Radiation-Induced - genetics; Adolescent; Child; Child, Preschool; Children; Chromosome Aberrations - radiation effects; Chromosomes aberration; Ehlers-Danlos syndrome; Ehlers-Danlos Syndrome - genetics; Ehlers-Danlos Syndrome - physiopathology; Female; Genome, Human - radiation effects; Humans; Joint Instability - etiology; Joint Instability - genetics; Low doses ionizing irradiation in vitro; Male; Radiation Dosage; Radiation Tolerance - genetics; Radiation, Ionizing; Skin Abnormalities - etiology; Skin Abnormalities - genetics; Ehlers-Danlos syndrome; Children; Low doses ionizing irradiation in vitro; Chromosomes aberration

Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility with prevalence 1:20 000. Its incidence is probably underestimated due to unknown number of subjects having mild symptoms who may have neve...