{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T06:22:54Z","timestamp":1777357374999,"version":"3.51.4"},"reference-count":20,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,11]]},"DOI":"10.1016\/j.ejmg.2020.104021","type":"journal-article","created":{"date-parts":[[2020,8,2]],"date-time":"2020-08-02T10:40:52Z","timestamp":1596364852000},"page":"104021","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"title":["UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report"],"prefix":"10.1016","volume":"63","author":[{"given":"Guiping","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiwei","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongli","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huan","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongtao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhe","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ejmg.2020.104021_bib1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1097\/01202412-200601000-00009","article-title":"Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type","volume":"15","author":"Amirfeyz","year":"2006","journal-title":"Journal of pediatric orthopedics Part B"},{"issue":"12","key":"10.1016\/j.ejmg.2020.104021_bib2","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","article-title":"Nosology and classification of genetic skeletal disorders: 2015 revision","volume":"167a","author":"Bonafe","year":"2015","journal-title":"Am. J. Med. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2020.104021_bib3","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1038\/ejhg.2015.186","article-title":"Novel genetic causes for cerebral visual impairment","volume":"24","author":"Bosch","year":"2016","journal-title":"Eur. J. Hum. Genet. : EJHG (Eur. J. Hum. Genet.)"},{"issue":"3","key":"10.1016\/j.ejmg.2020.104021_bib5","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004082","article-title":"An ER complex of ODR-4 and ODR-8\/Ufm1 specific protease 2 promotes GPCR maturation by a Ufm1-independent mechanism","volume":"10","author":"Chen","year":"2014","journal-title":"PLoS Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2020.104021_bib7","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1016\/j.ajhg.2016.04.004","article-title":"BGN mutations in X-linked spondyloepimetaphyseal dysplasia","volume":"98","author":"Cho","year":"2016","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2020.104021_bib9","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.berh.2007.12.009","article-title":"Spondylo-epi-metaphyseal dysplasia","volume":"22","author":"Cormier-Daire","year":"2008","journal-title":"Best Pract. Res. Clin. Rheumatol."},{"issue":"2","key":"10.1016\/j.ejmg.2020.104021_bib10","doi-asserted-by":"crossref","first-page":"627","DOI":"10.3390\/cells3020627","article-title":"The ufm1 cascade","volume":"3","author":"Daniel","year":"2014","journal-title":"Cells"},{"issue":"3","key":"10.1016\/j.ejmg.2020.104021_bib11","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1111\/cge.13134","article-title":"Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation","volume":"93","author":"Di Rocco","year":"2018","journal-title":"Clin. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2020.104021_bib12","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/sj.ejhg.5201339","article-title":"Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation","volume":"13","author":"Genevieve","year":"2005","journal-title":"Eur. J. Hum. Genet. : EJHG (Eur. J. Hum. Genet.)"},{"issue":"12","key":"10.1016\/j.ejmg.2020.104021_bib14","doi-asserted-by":"crossref","first-page":"10248","DOI":"10.1074\/jbc.M110.172171","article-title":"Structure of ubiquitin-fold modifier 1-specific protease UfSP2","volume":"286","author":"Ha","year":"2011","journal-title":"J. Biol. Chem."},{"issue":"8","key":"10.1016\/j.ejmg.2020.104021_bib16","doi-asserted-by":"crossref","first-page":"14555","DOI":"10.3390\/ijms150814555","article-title":"Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-beta in chondroprogenitor cells","volume":"15","author":"Jayasuriya","year":"2014","journal-title":"Int. J. Mol. Sci."},{"issue":"8","key":"10.1016\/j.ejmg.2020.104021_bib17","doi-asserted-by":"crossref","first-page":"5256","DOI":"10.1074\/jbc.M610590200","article-title":"Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2","volume":"282","author":"Kang","year":"2007","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.ejmg.2020.104021_bib19","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.rdc.2013.03.004","article-title":"Mucopolysaccharidoses and other lysosomal storage diseases","volume":"39","author":"Lampe","year":"2013","journal-title":"Rheum. Dis. Clin. N. Am."},{"issue":"1","key":"10.1016\/j.ejmg.2020.104021_bib21","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1159\/000333098","article-title":"Dysspondyloenchondromatosis: another col2a1-related skeletal dysplasia?","volume":"2","author":"Nakane","year":"2011","journal-title":"Molecular syndromology"},{"issue":"5","key":"10.1016\/j.ejmg.2020.104021_bib23","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med. : official journal of the American College of Medical Genetics"},{"issue":"6","key":"10.1016\/j.ejmg.2020.104021_bib24","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1111\/cen.13581","article-title":"Heterozygous aggrecan variants are associated with short stature and brachydactyly: description of 16 probands and a review of the literature","volume":"88","author":"Sentchordi-Montane","year":"2018","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.ejmg.2020.104021_bib25","doi-asserted-by":"crossref","first-page":"45","DOI":"10.2147\/TACG.S141881","article-title":"Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA","volume":"11","author":"Tapiero-Rodriguez","year":"2018","journal-title":"Appl. Clin. Genet."},{"issue":"16","key":"10.1016\/j.ejmg.2020.104021_bib28","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"issue":"7","key":"10.1016\/j.ejmg.2020.104021_bib29","first-page":"558","article-title":"Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia","volume":"105","author":"Watson","year":"2015","journal-title":"South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde"},{"issue":"6218","key":"10.1016\/j.ejmg.2020.104021_bib30","doi-asserted-by":"crossref","first-page":"1254806","DOI":"10.1126\/science.1254806","article-title":"RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease","volume":"347","author":"Xiong","year":"2015","journal-title":"Science"}],"updated-by":[{"DOI":"10.1016\/j.ejmg.2021.104143","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000}}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219305993?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219305993?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T11:02:53Z","timestamp":1752577373000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721219305993"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["S1769721219305993"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.104021","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.ejmg.2021.104143","asserted-by":"object"}]},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.104021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104021"}}