{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T01:26:29Z","timestamp":1771464389876,"version":"3.50.1"},"reference-count":18,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100006143","name":"Department of Science and Technology, Government of Kerala","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006143","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001409","name":"Department of Science and Technology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["SB\/SO\/HS\/005\/2014"],"award-info":[{"award-number":["SB\/SO\/HS\/005\/2014"]}],"id":[{"id":"10.13039\/501100001409","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2022,6]]},"DOI":"10.1016\/j.ejmg.2022.104521","type":"journal-article","created":{"date-parts":[[2022,5,11]],"date-time":"2022-05-11T12:56:58Z","timestamp":1652273818000},"page":"104521","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles"],"prefix":"10.1016","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta M.","family":"Girisha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prince","family":"Jacob","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5284-8909","authenticated-orcid":false,"given":"Gandham","family":"SriLakshmi Bhavani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2940-3108","authenticated-orcid":false,"given":"Hitesh","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geert R.","family":"Mortier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2022.104521_bib1","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1002\/ajmg.a.61465","article-title":"Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation","volume":"182","author":"Amlie\u2010Wolf","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2022.104521_bib2","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.25060","article-title":"Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system","volume":"6","author":"Belbin","year":"2017","journal-title":"Elife"},{"key":"10.1016\/j.ejmg.2022.104521_bib3","doi-asserted-by":"crossref","first-page":"31067","DOI":"10.1074\/jbc.M212889200","article-title":"A novel and highly conserved collagen (pro\u03b11(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family","volume":"278","author":"Boot-Handford","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2022.104521_bib4","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1097\/BPO.0b013e3181d3e464","article-title":"Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features","volume":"30","author":"Flynn","year":"2010","journal-title":"J. Pediatr. Orthop."},{"key":"10.1016\/j.ejmg.2022.104521_bib5","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1002\/ajmg.a.38153","article-title":"A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss","volume":"173","author":"Gariballa","year":"2017","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2022.104521_bib6","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ejhg.2014.107","article-title":"Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population","volume":"23","author":"Gonzaga-Jauregui","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2022.104521_bib7","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1038\/s41431-020-0632-x","article-title":"Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide","volume":"28","author":"Gonzaga-Jauregui","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2022.104521_bib8","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1111\/cge.13006","article-title":"Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1: KOTABAGI et al","volume":"92","author":"Kotabagi","year":"2017","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2022.104521_bib9","article-title":"First reported case of Steel syndrome in the European population: a novel homozygous mutation in COL27A1 and review of the literature","volume":"63","author":"Kritioti","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2022.104521_bib10","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.ejmg.2022.104521_bib11","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1038\/s41436-018-0138-x","article-title":"Autozygome and high throughput confirmation of disease genes candidacy","volume":"21","author":"Maddirevula","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2022.104521_bib12","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0945-053X(03)00007-6","article-title":"Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1","volume":"22","author":"Pace","year":"2003","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ejmg.2022.104521_bib13","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0029422","article-title":"Collagen XXVII organises the pericellular matrix in the growth plate","volume":"6","author":"Plumb","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2022.104521_bib14","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1002\/ajmg.a.61478","article-title":"A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye","volume":"182","author":"P\u00f6lsler","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2022.104521_bib15","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1111\/cge.13468","article-title":"Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome","volume":"95","author":"Somashekar","year":"2019","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2022.104521_bib16","doi-asserted-by":"crossref","first-page":"259","DOI":"10.2106\/00004623-199302000-00013","article-title":"A syndrome of dislocated hips and radial heads, carpal coalition, and short stature in Puerto Rican children","volume":"75","author":"Steel","year":"1993","journal-title":"J Bone Joint Surg Am"},{"key":"10.1016\/j.ejmg.2022.104521_bib17","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/cge.13470","article-title":"Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability","volume":"95","author":"Thuresson","year":"2019","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2022.104521_bib18","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/nmeth.3213","article-title":"The I-TASSER Suite: protein structure and function prediction","volume":"12","author":"Yang","year":"2015","journal-title":"Nat. Methods"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222001021?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222001021?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:52:25Z","timestamp":1761709945000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721222001021"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["S1769721222001021"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104521","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104521","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104521"}}