{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T00:12:49Z","timestamp":1793059969244,"version":"4.5.0"},"reference-count":0,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,9,8]],"date-time":"2017-09-08T00:00:00Z","timestamp":1504828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006313","name":"Barncancerfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006313","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010381","name":"European Society for Paediatric Endocrinology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010381","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on two new patients with spondyloocular syndrome. Both patients harbor novel homozygous mutations in the <jats:italic>XYLT2<\/jats:italic> gene. The patients present severe generalized osteoporosis, multiple fractures, short stature, cataract, and mild hearing impairment. <jats:italic>XYLT2<\/jats:italic> mutations have been identified in spondyloocular syndrome, however only five mutations have been reported previously. These two patients with novel mutations extend the phenotypic and genotypic spectrum of spondyloocular syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38470","type":"journal-article","created":{"date-parts":[[2017,9,8]],"date-time":"2017-09-08T10:55:45Z","timestamp":1504868145000},"page":"3195-3200","source":"Crossref","is-referenced-by-count":28,"title":["Two novel mutations in <i>XYLT2<\/i> cause spondyloocular syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2907-0235","authenticated-orcid":false,"given":"Fulya","family":"Taylan","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery Center for Molecular Medicine Karolinska Institute Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra","family":"Yava\u015f Abal\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"J\u00e4ntti","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Center for Molecular Medicine Karolinska Institute Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilay","family":"G\u00fcne\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Cerrahpasa Medicine School Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feyza","family":"Darendeliler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Firdevs","family":"Ba\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015e\u00fckran","family":"Poyrazo\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nevbahar","family":"Tam\u00e7elik","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Cerrahpasa Medicine School Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Cerrahpasa Medicine School Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Center for Molecular Medicine Karolinska Institute Stockholm Sweden"},{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"},{"name":"Folkh\u00e4lsan Institute of Genetics Helsinki Finland"},{"name":"Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,8]]},"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.38470","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38470","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T16:42:17Z","timestamp":1696610537000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38470"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,8]]},"references-count":0,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1002\/ajmg.a.38470"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38470","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,8]]}}}