{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T12:25:07Z","timestamp":1781871907316,"version":"3.54.5"},"reference-count":7,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T00:00:00Z","timestamp":1375660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Deficiency of carbohydrate sulfotransferase 3 (<jats:italic>CHST3<\/jats:italic>; also known as chondroitin\u20106\u2010sulfotranferase) has been associated with a phenotype of severe chondrodysplasia and progressive spinal involvement. Recent reports indicate that affected individuals initially present with neonatal multiple joint dislocations. We describe a 14\u2010year\u2010old Somali patient and her 3\u2010year\u2010old maternal half\u2010brother with novel homozygous <jats:italic>CHST3<\/jats:italic> mutations. The proband presented at the age 5\u00bd years with short stature and genua valga. Her clinical course was characterized by rapid progression of spinal deformities and large joint contractures. Her half\u2010brother presented at birth with bilateral knee dislocation and talipes equinovarus. This report of a Somali family with <jats:italic>CHST3<\/jats:italic>\u2010related chondrodysplasia illustrates the intrafamilial variability in phenotypic expression of this rare disorder. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36094","type":"journal-article","created":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T21:23:22Z","timestamp":1375737802000},"page":"2588-2593","source":"Crossref","is-referenced-by-count":13,"title":["Two somali half\u2010siblings with <i>CHST3<\/i>\u2010related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability"],"prefix":"10.1002","volume":"161","author":[{"given":"George A","family":"Tanteles","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Nottingham City Hospital Nottingham UK"},{"name":"Department of Clinical Genetics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhijit","family":"Dixit","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Nottingham City Hospital Nottingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunil","family":"Dhar","sequence":"additional","affiliation":[{"name":"Department of Trauma and Orthopaedics Queens Medical Centre Nottingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Nottingham City Hospital Nottingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.006"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20606"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0400334101"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01167.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33641"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32482"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36094","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T22:58:58Z","timestamp":1696633138000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,5]]},"references-count":7,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1002\/ajmg.a.36094"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36094","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,5]]}}}