Judge M R, Kilby A, Harper J I
Department of Dermatology, Hospital for Sick Children, London, U.K.
Br J Dermatol. 1993 Dec;129(6):723-5. doi: 10.1111/j.1365-2133.1993.tb03340.x.
A 10-year-old girl with Rothmund-Thomson syndrome developed a fibular osteosarcoma. Standard chemotherapy produced intolerable toxicity, necessitating a modification of therapy. Initial DNA repair studies on skin fibroblasts were abnormal, but repeat studies failed to reproduce the defects.