Reference
Alvarez CM, De Vera MA, Heslip TR, et al. (2007) Evaluation of the anatomic burden of patients with hereditary multiple exostoses. Clin Orthop Relat Res 462:73–79. doi: 10.1097/BLO.0b013e3181334b51.
Abou Tayoun AN, Pesaran T, DiStefano MT, et al. (2018) Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Human Mutation 39:1517-1524. doi: 10.1002/humu. 23626.
Biesecker LG, Harrison SM. (2018) The ACMG/AMP reputable source criteria for the interpretation of sequence variants. Genetics in Medicine 20:1687-1688. doi: 10.1038/gim.2018.42.
Busse, M., Feta, A., Presto, J., et al. (2007) Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. J. Biol. Chem 282, 32802–32810. doi:10.1074/jbc.M703560200
Ciavarella M, Coco M, Baorda F, et al. (2013) 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. Gene 515:339–348. doi: 10.1016/j.gene.2012.11.055.
Clines, G. A., Ashley, J. A., Shah, S., et al. (1997) The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res 7, 359–367. doi:10.1101/gr.7.4.359
D’Arienzo, A., Andreani, L., Sacchetti, F., et al. (2019) Hereditary multiple exostoses: current insights. Orthop. Res. Rev 11,199–211. doi:10.2147/ORR.S183979
Francannet C, Cohen-Tanugi A, Le Merrer et al. (2001) Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 38:430–434. doi: 10.1136/jmg.38.7.430.
Jennes I, Pedrini E, Zuntini M, et al. (2009) Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat 30:1620–1627. doi: 10.1002/humu.21123.
Kalia SS, Adelman K, Bale SJ, et al. (2017) Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 19(2):249-255. doi: 10.1038/gim.2016.190.
Lind, T., Tufaro, F., McCormick, C., et al. (1998) The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J. Biol. Chem 273, 26265–26268. doi: 10.1074 /jbc. 273.41.26265
Ludecke, H.J., Ahn, J., Lin, X., et al. (1997) Genomic organization and promoter structure of the human EXT1 gene. Genomics 40,351–354. doi:10.1006/geno.1996.4577
McCormick, C., Leduc, Y., Martindale, D., et al. (1998) The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat. Genet 19, 158–161.doi:10.1038/514
Porter DE, Simpson AHRW. (1999) The neoplastic pathogenesis of solitary and multiple osteochondromas. J Pathol 188:119–25. doi: 10.1002/(SICI)1096-9896.
Porter DE, Lonie L, Fraser M, et al. (2004) Severity of disease and risk in malignant change in hereditary multiple exostoses. J Bone Joint Surg Br 86:1041– 6. doi: 10.1302/0301-620x.86b7.14815.
Rajarshi G, Steven MH, Heidi LR, et al. (2018) Updated recommendation for the benign stand-alone ACMG/AMP criterion. Human mutation 39(11):1525-1530. doi: 10.1002/humu.23642.
Ryckx A, Somers JF, Allaert L. (2013) Hereditary multiple exostosis. Acta Orthop Belg 79(6):597-607.
Schmale GA, Conrad EU, Raskind WH. (1994) The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 76:986–92. doi: 10.2106/00004623-199407000-00005.
Wicklund CL, Pauli RM, Johnson DR, et al. (1995) Natural history of Hereditary Multiple Exostoses. Am J Med Genet 55:43–6. doi: 10.1002/ajmg.1320550113.
Wu YQ, Heutink P, de Vries BB, et al. (1994) Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet 3:167–171. doi: 10.1093/hmg/3.1.167.
Wuyts W, Van Hul W, Wauters J, et al. (1996) Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet 5:1547–1557. doi: 10.1093/hmg/5.10.1547.