{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:44:20Z","timestamp":1791330260458,"version":"4.3.1"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,11,24]],"date-time":"2015-11-24T00:00:00Z","timestamp":1448323200000},"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":[[2016,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on a boy with a neonatal short limb skeletal dysplasia with serious medical complications, associated with one intragenic and one complete deletion of <jats:italic>XYLT1<\/jats:italic>. <jats:italic>XYLT1<\/jats:italic> mutations have recently been reported as causative in recessive Desbuquois skeletal dysplasia (DBSD), but the skeletal features in our patient do not fit this diagnosis. It is possible that the phenotype of <jats:italic>XYLT1<\/jats:italic> mutations extends to more aspecific types of short limb skeletal dysplasias and not to DBSD alone. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37453","type":"journal-article","created":{"date-parts":[[2015,11,25]],"date-time":"2015-11-25T05:15:30Z","timestamp":1448428530000},"page":"510-514","source":"Crossref","is-referenced-by-count":18,"title":["Complete and partial <i>XYLT1<\/i> deletion in a patient with neonatal short limb skeletal dysplasia"],"prefix":"10.1002","volume":"170","author":[{"given":"Silvana","family":"van Koningsbruggen","sequence":"first","affiliation":[{"name":"Department of Medical Genetics AMC University Hospital Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hennie","family":"Knoester","sequence":"additional","affiliation":[{"name":"Department of Pediatric Intensive Care Medicine, Emma Childrens Hospital AMC University Hospital Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roel","family":"Bakx","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Pediatric Surgical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Mook","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics AMC University Hospital Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lia","family":"Knegt","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics AMC University Hospital Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Maarten","family":"Cobben","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics AMC University Hospital Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,11,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.01.020"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.22.010605.093433"},{"key":"e_1_2_7_4_1","first-page":"575","article-title":"Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux souers","volume":"23","author":"Desbuquois G","year":"1966","journal-title":"Arch Franc Pediat"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20440"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.080226"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33347"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1351-y"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/12.4.57R"}],"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.37453","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37453","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:06:20Z","timestamp":1696622780000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37453"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,24]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.1002\/ajmg.a.37453"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37453","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,24]]}}}