{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T01:42:55Z","timestamp":1775094175488,"version":"3.50.1"},"reference-count":69,"publisher":"Hindawi Limited","issue":"12","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2100,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2009,12]]},"DOI":"10.1002\/humu.21123","type":"journal-article","created":{"date-parts":[[2009,10,6]],"date-time":"2009-10-06T23:34:25Z","timestamp":1254872065000},"page":"1620-1627","source":"Crossref","is-referenced-by-count":172,"title":["Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)"],"prefix":"10.1155","volume":"30","author":[{"given":"Ivy","family":"Jennes","sequence":"first","affiliation":[]},{"given":"Elena","family":"Pedrini","sequence":"additional","affiliation":[]},{"given":"Monia","family":"Zuntini","sequence":"additional","affiliation":[]},{"given":"Marina","family":"Mordenti","sequence":"additional","affiliation":[]},{"given":"Sahila","family":"Balkassmi","sequence":"additional","affiliation":[]},{"given":"Carla G.","family":"Asteggiano","sequence":"additional","affiliation":[]},{"given":"Brett","family":"Casey","sequence":"additional","affiliation":[]},{"given":"Bert","family":"Bakker","sequence":"additional","affiliation":[]},{"given":"Luca","family":"Sangiorgi","sequence":"additional","affiliation":[]},{"given":"Wim","family":"Wuyts","sequence":"additional","affiliation":[]}],"member":"98","reference":[{"key":"10.1002\/humu.21123-BIB1","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1038\/ng1095-137","article-title":"Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)","volume":"11","author":"Ahn","year":"1995","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21123-BIB2","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1399-0004.2006.00653.x","article-title":"The genotype\u00e2\u0080\u0093phenotype correlation of hereditary multiple exostoses","volume":"70","author":"Alvarez","year":"2006","journal-title":"Clin Genet"},{"key":"10.1002\/humu.21123-BIB3","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1097\/BLO.0b013e3181334b51","article-title":"Evaluation of the anatomic burden of patients with hereditary multiple exostoses","volume":"462","author":"Alvarez","year":"2007","journal-title":"Clin Orthop Relat Res"},{"key":"10.1002\/humu.21123-BIB4","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/27932","article-title":"Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion","volume":"394","author":"Bellaiche","year":"1998","journal-title":"Nature"},{"key":"10.1002\/humu.21123-BIB5","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3","article-title":"Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes","volume":"48","author":"Bernard","year":"2001","journal-title":"Cell Motil Cytoskeleton"},{"key":"10.1002\/humu.21123-BIB6","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1242\/dev.01061","article-title":"Abrogation of heparan sulfate synthesis in Drosophila disrupts the Wingless, Hedgehog and Decapentaplegic signaling pathways","volume":"131","author":"Bornemann","year":"2004","journal-title":"Development"},{"key":"10.1002\/humu.21123-BIB7","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/S0929-6646(09)60143-1","article-title":"Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses","volume":"105","author":"Chen","year":"2006","journal-title":"J Formos Med Assoc"},{"key":"10.1002\/humu.21123-BIB8","doi-asserted-by":"crossref","first-page":"e1000136","DOI":"10.1371\/journal.pgen.1000136","article-title":"Regulation of zebrafish skeletogenesis by ext2\/dackel and papst1\/pinscher","volume":"4","author":"Clement","year":"2008","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.21123-BIB9","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1101\/gr.7.4.359","article-title":"The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and caenorhabditis elegans","volume":"7","author":"Clines","year":"1997","journal-title":"Genome Res"},{"key":"10.1002\/humu.21123-BIB10","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21123-BIB11","doi-asserted-by":"crossref","first-page":"6245","DOI":"10.1242\/dev.00874","article-title":"The glypican Dally-like is required for Hedgehog signalling in the embryonic epidermis of Drosophila","volume":"130","author":"Desbordes","year":"2003","journal-title":"Development"},{"key":"10.1002\/humu.21123-BIB12","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/sj.ejhg.5200409","article-title":"Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses","volume":"8","author":"Dobson-Stone","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.21123-BIB13","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1146\/annurev.biochem.71.110601.135458","article-title":"Order out of chaos: assembly of ligand binding sites in heparan sulfate","volume":"71","author":"Esko","year":"2002","journal-title":"Annu Rev Biochem"},{"key":"10.1002\/humu.21123-BIB14","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1002\/humu.20201","article-title":"LOVD: easy creation of a locus-specific sequence variation database using an \u00e2\u0080\u009cLSDB-in-a-box\u00e2\u0080\u009d approach","volume":"26","author":"Fokkema","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21123-BIB15","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1136\/jmg.38.7.430","article-title":"Genotype\u00e2\u0080\u0093phenotype correlation in hereditary multiple exostoses","volume":"38","author":"Francannet","year":"2001","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21123-BIB16","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1002\/1097-0215(20011120)95:6<378::AID-IJC1067>3.0.CO;2-F","article-title":"Ext-mutation analysis in Italian sporadic and hereditary osteochondromas","volume":"95","author":"Gigante","year":"2001","journal-title":"Int J Cancer"},{"key":"10.1002\/humu.21123-BIB17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.10635","article-title":"Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis","volume":"112","author":"Hall","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.21123-BIB18","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1093\/jnci\/djk067","article-title":"The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions","volume":"99","author":"Hameetman","year":"2007","journal-title":"J Natl Cancer Inst"},{"key":"10.1002\/humu.21123-BIB19","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1242\/dev.01051","article-title":"Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation","volume":"131","author":"Han","year":"2004","journal-title":"Development"},{"key":"10.1002\/humu.21123-BIB20","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jmg.28.4.262","article-title":"Hereditary multiple exostoses","volume":"28","author":"Hennekam","year":"1991","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21123-BIB21","first-page":"97","article-title":"A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses]","volume":"21","author":"Hu","year":"2004","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1002\/humu.21123-BIB22","first-page":"307","volume-title":"Bones and cartilage: developmental and evolutionary skeletal biology","author":"Huysseune","year":"2000"},{"key":"10.1002\/humu.21123-BIB23","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1126\/science.1090497","article-title":"Mammalian brain morphogenesis and midline axon guidance require heparan sulfate","volume":"302","author":"Inatani","year":"2003","journal-title":"Science"},{"key":"10.1002\/humu.21123-BIB24","doi-asserted-by":"crossref","first-page":"85","DOI":"10.2353\/jmoldx.2008.070086","article-title":"Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas","volume":"10","author":"Jennes","year":"2008","journal-title":"J Mol Diagn"},{"key":"10.1002\/humu.21123-BIB25","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1073\/pnas.68.4.820","article-title":"Mutation and cancer: statistical study of retinoblastoma","volume":"68","author":"Knudson","year":"1971","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21123-BIB26","doi-asserted-by":"crossref","first-page":"8125","DOI":"10.1093\/nar\/15.20.8125","article-title":"An analysis of 5\u00e2\u0080\u00b2-noncoding sequences from 699 vertebrate messenger RNAs","volume":"15","author":"Kozak","year":"1987","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21123-BIB27","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.devcel.2004.05.009","article-title":"Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification","volume":"6","author":"Koziel","year":"2004","journal-title":"Dev Cell"},{"key":"10.1002\/humu.21123-BIB28","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1002\/jcb.20635","article-title":"Indian hedgehog: its roles and regulation in endochondral bone development","volume":"96","author":"Lai","year":"2005","journal-title":"J Cell Biochem"},{"key":"10.1002\/humu.21123-BIB29","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1093\/hmg\/3.5.717","article-title":"A gene for hereditary multiple exostoses maps to chromosome 19p","volume":"3","author":"Le Merrer","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21123-BIB30","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1016\/j.neuron.2004.11.029","article-title":"Axon sorting in the optic tract requires HSPG synthesis by ext2 (dackel) and extl3 (boxer)","volume":"44","author":"Lee","year":"2004","journal-title":"Neuron"},{"key":"10.1002\/humu.21123-BIB31","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1359\/jbmr.2000.15.8.1489","article-title":"EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses","volume":"15","author":"Legeai-Mallet","year":"2000","journal-title":"J Bone Miner Res"},{"key":"10.1002\/humu.21123-BIB32","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1089\/gte.2007.0070","article-title":"Ulna\/height ratio as clinical parameter separating EXT1 from EXT2 families?","volume":"12","author":"Leube","year":"2008","journal-title":"Genet Test"},{"key":"10.1002\/humu.21123-BIB33","doi-asserted-by":"crossref","first-page":"199","DOI":"10.3109\/10425179709034035","article-title":"Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for Hereditary Multiple Exostoses","volume":"7","author":"Lin","year":"1997","journal-title":"DNA Seq"},{"key":"10.1002\/humu.21123-BIB34","doi-asserted-by":"crossref","first-page":"26265","DOI":"10.1074\/jbc.273.41.26265","article-title":"The putative tumor suppressors EXT1 and EXT2 are glycosyltranserases required for the biosynthesis of heparan sulfate","volume":"273","author":"Lind","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21123-BIB35","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1089\/gte.2007.0035","article-title":"A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses","volume":"11","author":"Liu","year":"2007","journal-title":"Genet Test"},{"key":"10.1002\/humu.21123-BIB36","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1002\/humu.9467","article-title":"Determination of the mutation spectrum of the EXT1\/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases","volume":"27","author":"Lonie","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21123-BIB37","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ajmg.1320550113","article-title":"Natural history study of hereditary multiple exostoses","volume":"55","author":"Luckert Wicklund","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.21123-BIB38","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1006\/geno.1996.4577","article-title":"Genomic organization and promotor structure of the human EXT1 gene","volume":"40","author":"L\u00c3\u00bcdecke","year":"1997","journal-title":"Genomics"},{"key":"10.1002\/humu.21123-BIB39","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1073\/pnas.97.2.668","article-title":"The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the golgi apparatus and catalyzes the synthesis of heparan sulfate","volume":"97","author":"McCormick","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21123-BIB40","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S1357-4310(99)01593-2","article-title":"New perspectives on the molecular basis of hereditary bone tumours","volume":"5","author":"McCormick","year":"1999","journal-title":"Mol Med Today"},{"key":"10.1002\/humu.21123-BIB41","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1038\/514","article-title":"The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate","volume":"19","author":"McCormick","year":"1998","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21123-BIB42","volume-title":"Radiologic atlas of bone tumors","author":"Mulder","year":"1993"},{"key":"10.1002\/humu.21123-BIB43","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/humu.9359","article-title":"Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas","volume":"26","author":"Pedrini","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21123-BIB44","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1086\/515505","article-title":"Mutation screening of EXT1 and EXT2 genes in patients with hereditary multiple exostoses","volume":"61","author":"Philippe","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21123-BIB45","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1302\/0301-620X.86B7.14815","article-title":"Severity of disease and risk of malignant change in hereditary multiple exostoses","volume":"86","author":"Porter","year":"2004","journal-title":"A genotype\u00e2\u0080\u0093phenotype study. J Bone Joint Surg Br"},{"key":"10.1002\/humu.21123-BIB46","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K","article-title":"Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses","volume":"11","author":"Raskind","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21123-BIB47","doi-asserted-by":"crossref","first-page":"986","DOI":"10.2106\/00004623-199407000-00005","article-title":"The natural history of hereditary multiple exostoses","volume":"76","author":"Schmale","year":"1994","journal-title":"J Bone Joint Surg Br"},{"key":"10.1002\/humu.21123-BIB48","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/1096-8628(20010215)99:1<59::AID-AJMG1115>3.0.CO;2-Z","article-title":"Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses","volume":"99","author":"Seki","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.21123-BIB49","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1089\/109065702761403441","article-title":"Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan","volume":"6","author":"Shi","year":"2002","journal-title":"Genet Test"},{"key":"10.1002\/humu.21123-BIB50","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1002\/dvdy.20248","article-title":"Distinct tissue-specificity of three zebrafish ext1 genes encoding proteoglycan modifying enzymes and their relationship to somitic Sonic hedgehog signaling","volume":"232","author":"Siekmann","year":"2005","journal-title":"Dev Dyn"},{"key":"10.1002\/humu.21123-BIB51","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/gcc.20429","article-title":"A combined analytical approach reveals novel EXT1\/2 gene mutations in a large cohort of Italian multiple osteochondromas patients","volume":"46","author":"Signori","year":"2007","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1002\/humu.21123-BIB52","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1302\/0301-620X.45B2.292","article-title":"Hereditary multiple exostosis","volume":"45","author":"Solomon","year":"1963","journal-title":"J Bone Joint Surg (Br)"},{"key":"10.1002\/humu.21123-BIB53","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng0996-25","article-title":"The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes","volume":"14","author":"Stickens","year":"1996","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21123-BIB54","doi-asserted-by":"crossref","first-page":"5055","DOI":"10.1242\/dev.02088","article-title":"Mice deficient in Ext2 lack heparan sulfate and develop exostoses","volume":"132","author":"Stickens","year":"2005","journal-title":"Development"},{"key":"10.1002\/humu.21123-BIB55","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/S1097-2765(00)80214-2","article-title":"Hedgehog movement is regulated through tout velu-dependent synthesis of a heparan sulfate proteoglycan","volume":"4","author":"The","year":"1999","journal-title":"Mol Cell"},{"key":"10.1002\/humu.21123-BIB56","doi-asserted-by":"crossref","first-page":"21856","DOI":"10.1074\/jbc.M003540200","article-title":"Structural analysis of glycosaminoglycans in animals bearing mutations in sugarless, sulfateless, and tout-velu. Drosophila homologues of vertebrate genes encoding glycosaminoglycan biosynthetic enzymes","volume":"275","author":"Toyoda","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21123-BIB57","doi-asserted-by":"crossref","first-page":"2269","DOI":"10.1074\/jbc.275.4.2269","article-title":"Structural analysis of glycosaminoglycans in Drosophila and Caenorhabditiselegans and demonstration that tout-velu, a Drosophila gene related to EXT tumor suppressors, affects heparan sulfate in vivo","volume":"275","author":"Toyoda","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21123-BIB58","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1006\/geno.1997.5101","article-title":"Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family","volume":"47","author":"Van Hul","year":"1998","journal-title":"Genomics"},{"key":"10.1002\/humu.21123-BIB59","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1038\/sj.ejhg.5201343","article-title":"Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations","volume":"13","author":"Vink","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.21123-BIB60","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/humu.20054","article-title":"Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses","volume":"24","author":"White","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21123-BIB61","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1101\/gr.7.1.10","article-title":"Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family","volume":"7","author":"Wise","year":"1997","journal-title":"Genome Res"},{"key":"10.1002\/humu.21123-BIB62","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1093\/hmg\/5.10.1547","article-title":"Positional cloning of a gene involved in hereditary multiple exostoses","volume":"5","author":"Wuyts","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21123-BIB63","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1159\/000484796","article-title":"Identification and characterization of a novel member of the EXT gene family, EXTL2","volume":"5","author":"Wuyts","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.21123-BIB64","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1111\/j.1399-0004.2005.00538.x","article-title":"An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas","volume":"68","author":"Wuyts","year":"2005","journal-title":"Clin Genet"},{"key":"10.1002\/humu.21123-BIB65","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K","article-title":"Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes","volume":"15","author":"Wuyts","year":"2000","journal-title":"Hum Mut"},{"key":"10.1002\/humu.21123-BIB66","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1086\/301726","article-title":"Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses","volume":"62","author":"Wuyts","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21123-BIB67","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1054\/bjoc.2001.1880","article-title":"A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis","volume":"85","author":"Xiao","year":"2001","journal-title":"Br J Cancer"},{"key":"10.1002\/humu.21123-BIB68","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s004399900058","article-title":"Mutation analysis of hereditary multiple exostoses in the Chinese","volume":"105","author":"Xu","year":"1999","journal-title":"Hum Genet"},{"key":"10.1002\/humu.21123-BIB69","doi-asserted-by":"crossref","first-page":"32134","DOI":"10.1074\/jbc.M312624200","article-title":"Embryonic Fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chains","volume":"279","author":"Yamada","year":"2004","journal-title":"J Biol Chem"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21123","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.21123\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:12Z","timestamp":1672332732000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12]]},"references-count":69,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2009,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21123","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12]]}}}