Bone Abstracts

Homozygous or compound heterozygous mutations in the RECQL4 helicase gene are responsible for 65% cases of Rothmund-Thomson syndrome (RTS-type II), a rare premature ageing syndrome. RTS-II patients exhibit poikiloderma and various kinds of bone abnormalities: short stature, congenital radial ray anomalies, bone microarchitecture defects, diffuse or localized osteoporosis and increased risk of osteosarcoma. Mutations in the RECQL4 gene are also responsible for...