{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T11:07:22Z","timestamp":1778670442989,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,10,13]],"date-time":"2015-10-13T00:00:00Z","timestamp":1444694400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Japan Agency For Medical Research and Development (AMED)","award":["14525125"],"award-info":[{"award-number":["14525125"]}]}],"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>Spondylo\u2010meta\u2010epiphyseal dysplasia (SMED), short limb\u2010abnormal calcification type (SMED, SL\u2010AC), is a very rare autosomal recessive disorder with various skeletal changes characterized by premature calcification leading to severe disproportionate short stature. Twenty\u2010two patients have been reported until now, but only five mutations (four missense and one splice\u2010site) in the conserved sequence encoding the tyrosine kinase domain of the <jats:italic>DDR2<\/jats:italic> gene has been identified. We report here a novel <jats:italic>DDR2<\/jats:italic> missense mutation, c.370C\u2009&gt;\u2009T (p.Arg124Trp) in a Moroccan girl with SMED, SL\u2010AC, identified by whole exome sequencing. Our study has expanded the mutational spectrum of this rare disease and it has shown that exome sequencing is a powerful and cost\u2010effective tool for the diagnosis of clinically heterogeneous disorders such as SMED. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37426","type":"journal-article","created":{"date-parts":[[2015,10,14]],"date-time":"2015-10-14T03:37:22Z","timestamp":1444793842000},"page":"460-465","source":"Crossref","is-referenced-by-count":11,"title":["Novel <i>DDR2<\/i> mutation identified by whole exome sequencing in a Moroccan patient with spondylo\u2010meta\u2010epiphyseal dysplasia, short limb\u2010abnormal calcification type"],"prefix":"10.1002","volume":"170","author":[{"given":"Maria","family":"Mansouri","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, Institut National d'Hygi\u00e8ne Rabat Morocco"},{"name":"Centre de G\u00e9nomique Humaine, Facult\u00e9 de M\u00e9decine et de 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