{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,23]],"date-time":"2023-11-23T00:38:43Z","timestamp":1700699923980},"reference-count":3,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T00:00:00Z","timestamp":1403740800000},"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":[[2014,9]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report on a consanguineous Arab family in which three sibs had an unusual skeletal dysplasia characterized by anterior defects of the spine leading to severe lumbar kyphosis and marked brachydactyly with cone epiphyses. The clinical phenotype also included dysmorphic facial features, epilepsy, and developmental delay. This constellation likely represents a previously undescribed skeletal dysplasia, most probably inherited in an autosomal recessive pattern. A homozygosity mapping approach has thus far failed to unearth the responsible gene as the region shared by these three sibs is 27.7\u2009Mb in size and contains over 200 genes with no obvious candidate. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36632","type":"journal-article","created":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T19:39:39Z","timestamp":1403811579000},"page":"2147-2152","source":"Crossref","is-referenced-by-count":0,"title":["Cono\u2010spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder"],"prefix":"10.1002","volume":"164","author":[{"given":"Tawfeg","family":"Ben\u2010Omran","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Clinical and Metabolic Genetics Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shenela","family":"Lakhani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Clinical and Metabolic Genetics Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariam","family":"Almureikhi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Clinical and Metabolic Genetics Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rehab","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Clinical and Metabolic Genetics Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Laboratory for Statistical Analysis Centre for Genomic Medicine, RIKEN Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[{"name":"Laboratory of Bone and Joint Diseases Centre for Genomic Medicine, RIKEN Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centre Hospitalier Universitaire Vaudois (CHUV) University of Lausanne Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila","family":"Unger","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Centre Hospitalier Universitaire Vaudois (CHUV) University of Lausanne Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21300"},{"key":"e_1_2_8_3_1","first-page":"406","article-title":"Skeletal abnormalities in lysosomal storage diseases","author":"Stevenson DA","year":"2013","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(06)68406-7"}],"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.36632","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36632","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T14:45:09Z","timestamp":1700664309000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,26]]},"references-count":3,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1002\/ajmg.a.36632"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36632","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,26]]}}}