Folgende Texte zu genetischen Fragestellungen im Zusammenhang mit der Exostosenkrankheit sind kürzlich erschienen und könnten von Interesse sein:
Sarrión, P.; Sangorrin, A.; Urreizti, R.; Delgado, A.; Artuch, R.; Martorell, L. et al. (2013): Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Scientific reports (3).
Waaijer, Cathelijn J F; Winter, Marcel G T; Reijnders, Christianne M A; Jong, Daniëlle de; John Ham, S.; Bovée, Judith V M G; Szuhai, Károly (2013): Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas. Genes, chromosomes & cancer (52) (4).
Wu, Yuhong; Xing, Xuesha; Xu, Shaonian; Ma, Hongwei; Cao, Lihua; Wang, Shusen; Luo, Yang (2013): Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. Journal of orthopaedic research : official publication of the Orthopaedic Research Society (31) (9).
Zhou, Yong-an; Ma, Yun-xia; Zhang, Yong-hong; Hao, Zi-qi; Li, Xue-jing; Shi, Yi-yu et al. (2013): Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (30) (1).