Humpath.com - Human pathology

Home > A. Molecular pathology > EXT2

EXT2

MIM.608210 11p12-p11

Tuesday 26 June 2007

Pathology

- germline mutations in

  • multiple exostoses type II (MIM.133701)

References

- Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, Rosa MA, Rinaldi M, Wuyts W, Seripa D, Dallapiccola B, Fazio VM. A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer. 2007 May;46(5):470-7. PMID: 17301954

- Seki, H.; Kubota, T.; Ikegawa, S.; Haga, N.; Fujioka, F.; Ohzeki, S.; Wakui, K.; Yoshikawa, H.; Takaoka, K.; Fukushima, Y. : Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am. J. Med. Genet. 99: 59-62, 2001. PubMed ID : 11170095

- Raskind, W. H.; Conrad, E. U.; Chansky, H.; Matsushita, M. : Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am. J. Hum. Genet. 56: 1132-1139, 1995. PubMed ID : 7726169