{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T02:21:26Z","timestamp":1783477286169,"version":"3.55.0"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T00:00:00Z","timestamp":1733097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Multiple epiphyseal dysplasia (MED) is a heterogeneous group of chondrodysplasia characterized by arthralgia, early onset osteoarthropathy, and the radiographic findings of small, flat, and irregular\u2010shaped epiphyses. Some patients with MED have mild short stature as well. MED is genetically heterogeneous caused by pathogenic variants in\n                    <jats:italic>COMP, MATN3, COL9A1, COL9A2, COL9A3<\/jats:italic>\n                    , and\n                    <jats:italic>SLC26A2<\/jats:italic>\n                    . In 2017, pathogenic variants in\n                    <jats:italic>CANT1<\/jats:italic>\n                    , which are responsible for Desbuquois dysplasia, have also been reported in the genetic etiology of MED. To date, only three patients have been reported with\n                    <jats:italic>CANT1<\/jats:italic>\n                    \u2010related MED. Herein, we present clinical and radiographic findings of six additional patients from five unrelated families, all sharing the same c.375G\u2009&gt;\u2009C; p.(Trp125Cys) variant in\n                    <jats:italic>CANT1<\/jats:italic>\n                    gene. These patients exhibited the features of multiple epiphyseal dysplasia, along with some similarities to Desbuquois dysplasia, thereby broadening the clinical spectrum of\n                    <jats:italic>CANT1<\/jats:italic>\n                    \u2010related disorders.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63950","type":"journal-article","created":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T04:20:39Z","timestamp":1733113239000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a\n                    <scp>\n                      <i>CANT1<\/i>\n                    <\/scp>\n                    Variant Across Five Unrelated Families"],"prefix":"10.1002","volume":"197","author":[{"given":"Tu\u011fba","family":"Da\u015far","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Bilkent City Hospital  Ankara Turkiye"},{"name":"Department of Pediatric Genetics Hacettepe University  Ankara Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-3236","authenticated-orcid":false,"given":"Gizem","family":"\u00dcrel Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University  Ankara Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6zde","family":"\u0130mren","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hacettepe University  Ankara Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University  Ankara Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcney","family":"Yilmaz","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Hacettepe University  Ankara Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelin \u00d6zlem","family":"\u015eim\u015fek Kiper","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University  Ankara Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000356"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38349"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35445"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200317"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098\u2010022\u201004386\u20108"},{"key":"e_1_2_11_7_1","first-page":"1993","volume-title":"GeneReviews [Internet]","author":"Briggs M. D.","year":"2003"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.01.020"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102019\u2010106700"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.304733"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.221"},{"key":"e_1_2_11_12_1","first-page":"573","article-title":"Nanisme Chondrodystrophique Avec Ossification Anarchique et Polymalformations Chez Deux Soeurs","volume":"23","author":"Desbuquois G.","year":"1966","journal-title":"Pediatric Radiology Publishing Model"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.642097"},{"key":"e_1_2_11_14_1","unstructured":"Durkie M. E.\u2010J.Cassidy I.Berry et\u00a0al.2024.\u201cACGS Best Practice Guidelines for Variant Classification in Rare Disease.\u201dhttps:\/\/www.acgs.uk.com\/media\/12533\/uk\u2010practice\u2010guidelines\u2010for\u2010variant\u2010classification\u2010v12\u20102024.pdf."},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33404"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M201656200"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20440"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20441"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61372"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.080226"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1080\/21655979.2021.2003131"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22179304"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.001"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33347"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/2211\u20105463.12859"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.101"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247\u2010004\u20101323\u20104"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.11.005"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000291"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051124"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22104"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjrcr.20200137"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2018.11.002"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010013\u20101351\u2010y"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.11.006"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780190626655.001.0001"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1159\/000516607"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651\u20102227.2005.tb01909.x"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2007.11.009"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"e_1_2_11_41_1","first-page":"1993","volume-title":"GeneReviews [Internet]","author":"Unger S.","year":"2002"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001492\u20108"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63950","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T05:34:32Z","timestamp":1765517672000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63950"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,2]]},"references-count":41,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/ajmg.a.63950"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63950","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,2]]},"assertion":[{"value":"2024-03-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63950"}}