{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:59:13Z","timestamp":1789707553977,"version":"4.0.1"},"reference-count":22,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2021A1515011673"],"award-info":[{"award-number":["2021A1515011673"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2022A1515011181"],"award-info":[{"award-number":["2022A1515011181"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873673"],"award-info":[{"award-number":["81873673"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81900841"],"award-info":[{"award-number":["81900841"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.exer.2023.109606","type":"journal-article","created":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T02:07:20Z","timestamp":1690337240000},"page":"109606","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["Characteristics and genotype\u2013phenotype correlations in ADAMTS17 mutation\u2013related Weill\u2013Marchesani syndrome"],"prefix":"10.1016","volume":"234","author":[{"given":"Dongwei","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liyan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengmei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte Aimee","family":"Young","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danying","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangming","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2023.109606_bib1","doi-asserted-by":"crossref","DOI":"10.12659\/AJCR.930824","article-title":"Weill-marchesani syndrome, a rare presentation of severe short stature with review of the literature","volume":"22","author":"Al Motawa","year":"2021","journal-title":"Am J Case Rep"},{"key":"10.1016\/j.exer.2023.109606_bib2","doi-asserted-by":"crossref","first-page":"2915","DOI":"10.1093\/eurheartj\/ehq249","article-title":"ESC Guidelines for the management of grown-up congenital heart disease (new version 2010)","volume":"31","author":"Baumgartner","year":"2010","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.exer.2023.109606_bib3","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1086\/425231","article-title":"ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome","volume":"75","author":"Dagoneau","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2023.109606_bib4","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.matbio.2015.03.001","article-title":"Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics","volume":"44-46","author":"Dubail","year":"2015","journal-title":"Matrix Biol."},{"key":"10.1016\/j.exer.2023.109606_bib5","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-020-66978-8","article-title":"A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features","volume":"10","author":"Evans","year":"2020","journal-title":"Sci. Rep."},{"key":"10.1016\/j.exer.2023.109606_bib6","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1007\/s00439-002-0689-3","article-title":"Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2","volume":"110","author":"Faivre","year":"2002","journal-title":"Hum. Genet."},{"key":"10.1016\/j.exer.2023.109606_bib7","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1038\/ng.122","article-title":"Many sequence variants affecting diversity of adult human height","volume":"40","author":"Gudbjartsson","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2023.109606_bib8","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2021.108570","article-title":"Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients","volume":"207","author":"Guo","year":"2021","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.exer.2023.109606_bib9","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1136\/bjophthalmol-2021-320475","article-title":"Novel gene mutations in Chinese patients with isolated ectopia lentis","volume":"107","author":"Guo","year":"2023","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.exer.2023.109606_bib10","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1002\/humu.22105","article-title":"LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix","volume":"33","author":"Haji-Seyed-Javadi","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.exer.2023.109606_bib11","doi-asserted-by":"crossref","first-page":"3137","DOI":"10.1007\/s00018-011-0780-9","article-title":"Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function","volume":"68","author":"Hubmacher","year":"2011","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.exer.2023.109606_bib12","doi-asserted-by":"crossref","DOI":"10.1038\/srep41871","article-title":"Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease","volume":"7","author":"Hubmacher","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.exer.2023.109606_bib13","doi-asserted-by":"crossref","DOI":"10.1016\/j.matbio.2019.11.001","article-title":"A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix","volume":"88","author":"Karoulias","year":"2020","journal-title":"Matrix Biol."},{"key":"10.1016\/j.exer.2023.109606_bib21","doi-asserted-by":"crossref","first-page":"235","DOI":"10.3109\/13816810.2012.666708","article-title":"Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation","volume":"33","author":"Khan","year":"2012","journal-title":"Ophthalmic Genet"},{"key":"10.1016\/j.exer.2023.109606_bib22","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1038\/gim.2018.50","article-title":"Expanding the phenome and variome of skeletal dysplasia","volume":"20","author":"Maddirevula","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.exer.2023.109606_bib14","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ajhg.2009.09.011","article-title":"Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature","volume":"85","author":"Morales","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2023.109606_bib15","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0039-6257(82)90069-8","article-title":"Ectopia lentis","volume":"27","author":"Nelson","year":"1982","journal-title":"Surv. Ophthalmol."},{"key":"10.1016\/j.exer.2023.109606_bib16","doi-asserted-by":"crossref","DOI":"10.1371\/annotation\/df5af830-8e1d-495a-a206-f881ed85e7fe","article-title":"Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans","volume":"9","author":"Radner","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.exer.2023.109606_bib17","first-page":"790","article-title":"Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome","volume":"20","author":"Shah","year":"2014","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2023.109606_bib18","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1038\/s10038-019-0608-2","article-title":"A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family","volume":"64","author":"Yi","year":"2019","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.exer.2023.109606_bib19","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1097\/j.jcrs.0000000000000334","article-title":"Diagnosis and treatment of microspherophakia","volume":"46","author":"Yu","year":"2020","journal-title":"J. Cataract Refract. Surg."},{"key":"10.1016\/j.exer.2023.109606_bib20","article-title":"Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the gene: a case report","volume":"26","author":"Yu","year":"2022","journal-title":"Am J Ophthalmol Case Rep"}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483523002270?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483523002270?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T05:26:42Z","timestamp":1758000402000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483523002270"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":22,"alternative-id":["S0014483523002270"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2023.109606","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Characteristics and genotype\u2013phenotype correlations in ADAMTS17 mutation\u2013related Weill\u2013Marchesani syndrome","name":"articletitle","label":"Article Title"},{"value":"Experimental Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.exer.2023.109606","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"109606"}}