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Li, V. EXT2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5481 (accessed on 21 September 2026).
Li V. EXT2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5481. Accessed September 21, 2026.
Li, Vivi. "EXT2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5481 (accessed September 21, 2026).
Li, V. (2020, December 24). EXT2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5481
Li, Vivi. "EXT2 Gene." Encyclopedia. Web. 24 December, 2020.
EXT2 Gene
Edit

exostosin glycosyltransferase 2

genes

References

  1. Clement ND, Porter DE. Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender. Scott Med J. 2014 Feb;59(1):35-44. doi: 10.1177/0036933013518150.
  2. Farhan SM, Wang J, Robinson JF, Prasad AN, Rupar CA, Siu VM; FORGE CanadaConsortium, Hegele RA. Old gene, new phenotype: mutations in heparan sulfatesynthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.J Med Genet. 2015 Oct;52(10):666-75. doi: 10.1136/jmedgenet-2015-103279.
  3. Jochmann K, Bachvarova V, Vortkamp A. Heparan sulfate as a regulator ofendochondral ossification and osteochondroma development. Matrix Biol. 2014Feb;34:55-63. doi: 10.1016/j.matbio.2013.11.003.
  4. Labonne JD, Vogt J, Reali L, Kong IK, Layman LC, Kim HG. A microdeletionencompassing PHF21A in an individual with global developmental delay andcraniofacial anomalies. Am J Med Genet A. 2015 Dec;167A(12):3011-8. doi:10.1002/ajmg.a.37344.
  5. Lonie L, Porter DE, Fraser M, Cole T, Wise C, Yates L, Wakeling E, Blair E,Morava E, Monaco AP, Ragoussis J. Determination of the mutation spectrum of theEXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat. 2006Nov;27(11):1160.
  6. McCormick C, Duncan G, Goutsos KT, Tufaro F. The putative tumor suppressorsEXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus andcatalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A. 2000 Jan18;97(2):668-73.
  7. Musso N, Caronia FP, Castorina S, Lo Monte AI, Barresi V, Condorelli DF.Somatic loss of an EXT2 gene mutation during malignant progression in a patientwith hereditary multiple osteochondromas. Cancer Genet. 2015 Mar;208(3):62-7.doi: 10.1016/j.cancergen.2015.01.002.
  8. Romeike BF, Wuyts W. Proximal chromosome 11p contiguous gene deletion syndromephenotype: case report and review of the literature. Clin Neuropathol. 2007Jan-Feb;26(1):1-11. Review.
  9. Tian C, Yan R, Wen S, Li X, Li T, Cai Z, Li X, Du H, Chen H. A splice mutationand mRNA decay of EXT2 provoke hereditary multiple exostoses. PLoS One. 2014 Apr 11;9(4):e94848. doi: 10.1371/journal.pone.0094848.
  10. Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC,Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Construction ofa natural panel of 11p11.2 deletions and further delineation of the criticalregion involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005May;13(5):528-40.
  11. Wuyts W, Waeber G, Meinecke P, Schüler H, Goecke TO, Van Hul W, Bartsch O.Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinicaland molecular aspects. Eur J Hum Genet. 2004 May;12(5):400-6. Review.
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Update Date: 24 Dec 2020
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