{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T18:47:27Z","timestamp":1786992447919,"version":"build-2736575974"},"reference-count":23,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T00:00:00Z","timestamp":1703030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","award":["26033"],"award-info":[{"award-number":["26033"]}],"id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Engineering and Biotechnology"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1016\/j.jgeb.2023.100341","type":"journal-article","created":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T05:01:04Z","timestamp":1706590864000},"page":"100341","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature"],"prefix":"10.1016","volume":"22","author":[{"given":"Hoda A.","family":"Ahmed","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Elhossini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Aglan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalda","family":"Amr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgeb.2023.100341_b0005","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1186\/s12920-021-00993-0","article-title":"Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era","volume":"14","author":"Sabir","year":"2021","journal-title":"BMC Med Genomics"},{"issue":"7","key":"10.1016\/j.jgeb.2023.100341_b0010","doi-asserted-by":"crossref","first-page":"e2711","DOI":"10.1210\/clinem\/dgab088","article-title":"A high proportion of novel ACAN mutations and their prevalence in a large cohort of chinese short stature children","volume":"106","author":"Lin","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jgeb.2023.100341_b0015","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.708864","article-title":"Retrospective diagnosis of a novel ACAN pathogenic variant in a family with short stature: a case report and review of the literature","author":"Mancioppi","year":"2021","journal-title":"Front Genet"},{"issue":"12","key":"10.1016\/j.jgeb.2023.100341_b0020","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1002\/ajmg.a.61366","article-title":"Nosology and classification of genetic skeletal disorders: 2019 revision","volume":"179","author":"Mortier","year":"2019","journal-title":"Am J Med Genet A"},{"issue":"2","key":"10.1016\/j.jgeb.2023.100341_b0025","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1210\/jc.2016-3313","article-title":"Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations","volume":"102","author":"Gkourogianni","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.jgeb.2023.100341_b0030","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1186\/s13023-016-0459-2","article-title":"The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases","volume":"11","author":"Gibson","year":"2016","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.jgeb.2023.100341_b0035","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1038\/sj.cr.7290106","article-title":"Structure and function of aggrecan","volume":"12","author":"Kiani","year":"2002","journal-title":"Cell Res"},{"issue":"6","key":"10.1016\/j.jgeb.2023.100341_b0040","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-Montan\u00e9","year":"2018","journal-title":"Clin Endocrinol (oxf)"},{"issue":"3","key":"10.1016\/j.jgeb.2023.100341_b0045","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1297\/cpe.26.119","article-title":"ACAN mutations as a cause of familial short stature","volume":"26","author":"Dateki","year":"2017","journal-title":"Clin Pediatr Endocrinol"},{"issue":"1","key":"10.1016\/j.jgeb.2023.100341_b0050","doi-asserted-by":"crossref","first-page":"5215","DOI":"10.1038\/s41598-022-09211-y","article-title":"Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan","volume":"12","author":"Stattin","year":"2022","journal-title":"Sci Rep"},{"issue":"3","key":"10.1016\/j.jgeb.2023.100341_b0055","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1086\/444401","article-title":"A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis","volume":"77","author":"Gleghorn","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jgeb.2023.100341_b0060","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1186\/1471-2105-15-182","article-title":"Skewer: a fast and accurate adapter trimmer for next-generation sequencing paired-end reads","volume":"15","author":"Jiang","year":"2014","journal-title":"BMC Bioinform"},{"key":"10.1016\/j.jgeb.2023.100341_b0065","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1471-2105-15-30","article-title":"Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline","volume":"15","author":"Reid","year":"2014","journal-title":"BMC Bioinform"},{"key":"10.1016\/j.jgeb.2023.100341_b0070","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"},{"key":"10.1016\/j.jgeb.2023.100341_b0075","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1186\/s13023-021-01916-z","article-title":"PhenoDB GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data","volume":"16","author":"Wohler","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jgeb.2023.100341_b0080","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jgeb.2023.100341_b0085","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.jgeb.2023.100341_b0090","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.jgeb.2023.100341_b0095","doi-asserted-by":"crossref","first-page":"e115","DOI":"10.1093\/nar\/gks596","article-title":"Primer3\u2014New capabilities and interfaces","volume":"40","author":"Untergasser","year":"2012","journal-title":"Nucleic Acids Res"},{"issue":"10","key":"10.1016\/j.jgeb.2023.100341_b0100","doi-asserted-by":"crossref","first-page":"2861","DOI":"10.1002\/ajmg.a.62933","article-title":"A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia","volume":"188","author":"Elhossini","year":"2022","journal-title":"Am J Med Genet A"},{"issue":"1","key":"10.1016\/j.jgeb.2023.100341_b0105","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1097\/MCD.0000000000000241","article-title":"The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported","volume":"28","author":"Fukuhara","year":"2019","journal-title":"Clin Dysmorphol"},{"issue":"2","key":"10.1016\/j.jgeb.2023.100341_b0110","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/ajmg.1320370223","article-title":"Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen","volume":"37","author":"Anderson","year":"1990","journal-title":"Am J Med Genet"},{"issue":"1","key":"10.1016\/j.jgeb.2023.100341_b0115","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.ajhg.2008.12.001","article-title":"A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan","volume":"84","author":"Tompson","year":"2009","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Genetic Engineering and Biotechnology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1687157X23015123?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1687157X23015123?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T13:43:28Z","timestamp":1761659008000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1687157X23015123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["S1687157X23015123"],"URL":"https:\/\/doi.org\/10.1016\/j.jgeb.2023.100341","relation":{},"ISSN":["1687-157X"],"issn-type":[{"value":"1687-157X","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetic Engineering and Biotechnology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgeb.2023.100341","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Author(s). Published by Elsevier B.V. on behalf of Academy of Scientific Research and Technology.","name":"copyright","label":"Copyright"}],"article-number":"100341"}}