In this Review, familial and sporadic neurological disorders reported to have an etiological link with DNA repair defects are discussed, with special emphasis placed on the molecular link between ...

Gain-of-function mutations in fibroblast growth factor receptor (FGFR) genes are known to cause a range of skeletal disorders ...

An orthopaedic surgeon discusses how this approach helps alleviate pain caused by joint injuries and chronic conditions.

A number of these disorders have a definitive link to an inherited or acquired defect in one of the DNA repair pathways. Table 1 lists these disorders along with the known genetic DNA repair ...